Linked Data
dbSNP Id:
rs908003552
gnomAD v2:
3-180377670-C-A
gnomAD v3:
3-180659882-C-A
gnomAD v4:
3-180659882-C-A
COSMIC:
COSN9537321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659882C>A , CM000665.2:g.180659882C>A | GRCh38 |
| NC_000003.11:g.180377670C>A , CM000665.1:g.180377670C>A | GRCh37 |
| NC_000003.10:g.181860364C>A | NCBI36 |
| NG_029581.1:g.24614G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.517-113G>T MANE Select | ENSP00000417960.2:n.517-113G>T | |
| ENST00000650641.1:n.596-113G>T | ||
| ENST00000650889.1:n.689-113G>T | ||
| ENST00000651046.1:c.517-113G>T | ENSP00000499175.1:n.517-113G>T | |
| ENST00000651818.1:n.659-113G>T | ||
| ENST00000652024.1:n.608-113G>T | ||
| ENST00000652408.1:n.654-113G>T | ||
| ENST00000442201.6:c.517-113G>T | ENSP00000405708.2:n.517-113G>T | |
| ENST00000476379.5:c.517-113G>T | ENSP00000417960.1:n.517-113G>T | |
| NM_181426.1:c.517-113G>T | NP_852091.1:n.517-113G>T | |
| NM_181426.2:c.517-113G>T MANE Select | NP_852091.1:n.517-113G>T |