Linked Data
dbSNP Id:
rs199908125
ExAC:
7:99364768 C / T
gnomAD v2:
7-99364768-C-T
gnomAD v3:
7-99767145-C-T
gnomAD v4:
7-99767145-C-T
COSMIC:
COSM3721395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99767145C>T , CM000669.2:g.99767145C>T | GRCh38 |
| NC_000007.13:g.99364768C>T , CM000669.1:g.99364768C>T | GRCh37 |
| NC_000007.12:g.99202704C>T | NCBI36 |
| NG_008421.1:g.22041G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.784G>A | ENSP00000337915.3:p.Glu262Lys | |
| ENST00000651162.1:n.219G>A | ||
| ENST00000651514.1:c.784G>A MANE Select | ENSP00000498939.1:p.Glu262Lys | |
| ENST00000651783.1:c.325G>A | ENSP00000498924.1:p.Glu109Lys | |
| ENST00000652018.1:c.637G>A | ENSP00000498733.1:p.Glu213Lys | |
| ENST00000336411.6:c.784G>A | ENSP00000337915.2:p.Glu262Lys | |
| ENST00000354593.6:c.334G>A | ENSP00000346607.2:p.Glu112Lys | |
| NM_001202855.2:c.781G>A | NP_001189784.1:p.Glu261Lys | |
| NM_017460.5:c.784G>A | NP_059488.2:p.Glu262Lys | |
| XM_011515841.1:c.784G>A | XP_011514143.1:p.Glu262Lys | |
| XM_011515842.1:c.781G>A | XP_011514144.1:p.Glu261Lys | |
| NM_017460.6:c.784G>A MANE Select | NP_059488.2:p.Glu262Lys | |
| NM_001202855.3:c.781G>A | NP_001189784.1:p.Glu261Lys |