Linked Data
ClinVar Variation Id:
1521101
ClinVar RCV Id:
RCV002027794
dbSNP Id:
rs1428393158
gnomAD v3:
10-102685962-C-T
gnomAD v4:
10-102685962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102685962C>T , CM000672.2:g.102685962C>T | GRCh38 |
| NC_000010.10:g.104445719C>T , CM000672.1:g.104445719C>T | GRCh37 |
| NC_000010.9:g.104435709C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.355G>A MANE Select | ENSP00000260746.4:p.Val119Met | |
| ENST00000260746.5:c.355G>A | ENSP00000260746.4:p.Val119Met | |
| NM_004311.3:c.355G>A | NP_004302.1:p.Val119Met | |
| XM_017016260.1:c.355G>A | XP_016871749.1:p.Val119Met | |
| NM_004311.4:c.355G>A MANE Select | NP_004302.1:p.Val119Met |