Linked Data
ClinVar Variation Id:
2075378
ClinVar RCV Id:
RCV002967680
dbSNP Id:
rs762642157
ExAC:
7:42005385 C / T
gnomAD v2:
7-42005385-C-T
gnomAD v3:
7-41965787-C-T
gnomAD v4:
7-41965787-C-T
COSMIC:
COSM3880998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965787C>T , CM000669.2:g.41965787C>T | GRCh38 |
| NC_000007.13:g.42005385C>T , CM000669.1:g.42005385C>T | GRCh37 |
| NC_000007.12:g.41971910C>T | NCBI36 |
| NG_008434.1:g.276234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3286G>A MANE Select | ENSP00000379258.3:p.Val1096Met | |
| ENST00000677288.1:c.3112G>A | ENSP00000503986.1:p.Val1038Met | |
| ENST00000677605.1:c.3286G>A | ENSP00000503743.1:p.Val1096Met | |
| ENST00000678429.1:c.3286G>A | ENSP00000502957.1:p.Val1096Met | |
| ENST00000395925.7:c.3286G>A | ENSP00000379258.3:p.Val1096Met | |
| ENST00000479210.1:n.3263G>A | ||
| NM_000168.5:c.3286G>A | NP_000159.3:p.Val1096Met | |
| XM_005249703.1:c.3286G>A | XP_005249760.1:p.Val1096Met | |
| XM_005249704.2:c.3286G>A | XP_005249761.1:p.Val1096Met | |
| XM_011515272.1:c.3286G>A | XP_011513574.1:p.Val1096Met | |
| XM_011515273.1:c.3286G>A | XP_011513575.1:p.Val1096Met | |
| XM_011515274.1:c.3109G>A | XP_011513576.1:p.Val1037Met | |
| XM_011515274.2:c.3109G>A | XP_011513576.1:p.Val1037Met | |
| XM_017011997.1:c.3283G>A | XP_016867486.1:p.Val1095Met | |
| NM_000168.6:c.3286G>A MANE Select | NP_000159.3:p.Val1096Met |