Linked Data
dbSNP Id:
rs1350279470
gnomAD v2:
12-24981479-T-A
gnomAD v3:
12-24828545-T-A
gnomAD v4:
12-24828545-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.24828545T>A , CM000674.2:g.24828545T>A | GRCh38 |
| NC_000012.11:g.24981479T>A , CM000674.1:g.24981479T>A | GRCh37 |
| NC_000012.10:g.24872746T>A | NCBI36 |
| NG_008170.1:g.125830A>T | |
| NG_008170.2:g.125830A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261192.12:c.1119+1278A>T MANE Select | ENSP00000261192.7:n.1119+1278A>T | |
| ENST00000261192.11:c.1119+1278A>T | ENSP00000261192.7:n.1119+1278A>T | |
| ENST00000342945.9:c.936+1278A>T | ENSP00000339805.5:n.936+1278A>T | |
| ENST00000538118.5:c.1116+1278A>T | ENSP00000440817.1:n.1116+1278A>T | |
| ENST00000539282.5:c.1155+1278A>T | ENSP00000443459.1:n.1155+1278A>T | |
| ENST00000539780.5:c.1008+1278A>T | ENSP00000440827.1:n.1008+1278A>T | |
| ENST00000543099.1:n.174+1278A>T | ||
| NM_001178091.1:c.1008+1278A>T | NP_001171562.1:n.1008+1278A>T | |
| NM_001178092.1:c.936+1278A>T | NP_001171563.1:n.936+1278A>T | |
| NM_001178093.1:c.1155+1278A>T | NP_001171564.1:n.1155+1278A>T | |
| NM_001178094.1:c.1116+1278A>T | NP_001171565.1:n.1116+1278A>T | |
| NM_005504.6:c.1119+1278A>T | NP_005495.2:n.1119+1278A>T | |
| XM_011520810.1:c.1155+1278A>T | XP_011519112.1:n.1155+1278A>T | |
| XR_931441.1:n.1532-2156T>A | ||
| XR_931442.1:n.1532-2156T>A | ||
| XR_931443.1:n.1439-2156T>A | ||
| XM_017019768.2:c.1221+1278A>T | XP_016875257.1:n.1221+1278A>T | |
| XR_001748835.2:n.4171+1278A>T | ||
| XR_001749047.1:n.3978-2156T>A | ||
| XR_001749048.2:n.3978-2156T>A | ||
| XR_001749049.1:n.3885-2156T>A | ||
| NM_005504.7:c.1119+1278A>T MANE Select | NP_005495.2:n.1119+1278A>T | |
| NM_001178091.2:c.1008+1278A>T | NP_001171562.1:n.1008+1278A>T | |
| NM_001178092.2:c.936+1278A>T | NP_001171563.1:n.936+1278A>T | |
| NM_001178093.2:c.1155+1278A>T | NP_001171564.1:n.1155+1278A>T | |
| NM_001178094.2:c.1116+1278A>T | NP_001171565.1:n.1116+1278A>T |