Linked Data
ClinVar Variation Id:
1579640
ClinVar RCV Id:
RCV002094614
dbSNP Id:
rs576741297
ExAC:
10:104449656 C / T
gnomAD v2:
10-104449656-C-T
gnomAD v3:
10-102689899-C-T
gnomAD v4:
10-102689899-C-T
COSMIC:
COSM6278425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102689899C>T , CM000672.2:g.102689899C>T | GRCh38 |
| NC_000010.10:g.104449656C>T , CM000672.1:g.104449656C>T | GRCh37 |
| NC_000010.9:g.104439646C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.309G>A MANE Select | ENSP00000260746.4:p.Thr103= | |
| ENST00000260746.5:c.309G>A | ENSP00000260746.4:p.Thr103= | |
| NM_004311.3:c.309G>A | NP_004302.1:p.Thr103= | |
| XM_017016260.1:c.309G>A | XP_016871749.1:p.Thr103= | |
| NM_004311.4:c.309G>A MANE Select | NP_004302.1:p.Thr103= |