Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 3:37020411 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970964 ; PhenCode MMR_c.986A>C (A/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB MLH1_c.986A>C, 1270

This variation has 23 HGVS names - click the plus to show

3:g.37020411A>C
ENST00000447829.3:c.*97A>C
ENST00000455445.4:c.263A>C
ENSP00000398272.2:p.His88Pro
ENST00000458205.4:c.263A>C
ENSP00000402667.2:p.His88Pro
ENST00000435176.3:c.692A>C
ENSP00000402564.1:p.His231Pro
ENST00000536378.3:c.263A>C
ENSP00000444286.2:p.His88Pro
ENST00000413212.1:c.114-5226A>C
ENST00000441265.3:c.263A>C
ENSP00000398392.1:p.His88Pro
ENST00000231790.4:c.986A>C
ENSP00000231790.2:p.His329Pro
ENST00000456676.4:c.961A>C
ENSP00000416687.2:p.His321Pro
ENST00000539477.3:c.263A>C
ENSP00000443665.1:p.His88Pro
ENST00000458009.3:c.225+2812A>C
LRG_216:g.32062A>C
LRG_216t1:c.986A>C
LRG_216p1:p.His329Pro

Variation displays