Linked Data
dbSNP Id:
rs779972036
gnomAD v2:
3-121491340-T-A
gnomAD v3:
3-121772493-T-A
gnomAD v4:
3-121772493-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121772493T>A , CM000665.2:g.121772493T>A | GRCh38 |
| NC_000003.11:g.121491340T>A , CM000665.1:g.121491340T>A | GRCh37 |
| NC_000003.10:g.122974030T>A | NCBI36 |
| NG_015887.1:g.67587A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1567+64A>T MANE Select | ENSP00000311505.6:n.1567+64A>T | |
| ENST00000310864.10:c.1567+64A>T | ENSP00000311505.6:n.1567+64A>T | |
| ENST00000349820.10:c.1168+64A>T | ENSP00000323756.7:n.1168+64A>T | |
| ENST00000393650.7:c.*545+64A>T | ENSP00000377261.3:n.*545+64A>T | |
| NM_001023570.2:c.1567+64A>T | NP_001018864.2:n.1567+64A>T | |
| NM_001023571.2:c.1168+64A>T | NP_001018865.2:n.1168+64A>T | |
| XM_005247911.2:c.1411-1919A>T | XP_005247968.1:n.1411-1919A>T | |
| XM_005247912.1:c.1015+64A>T | XP_005247969.1:n.1015+64A>T | |
| XM_011513335.1:c.1015+64A>T | XP_011511637.1:n.1015+64A>T | |
| XR_924221.1:n.1584+64A>T | ||
| NM_001023570.3:c.1567+64A>T | NP_001018864.2:n.1567+64A>T | |
| NM_001023571.3:c.1168+64A>T | NP_001018865.2:n.1168+64A>T | |
| NM_001319107.1:c.1567+64A>T | NP_001306036.1:n.1567+64A>T | |
| NR_134968.1:n.1671+64A>T | ||
| XM_005247911.4:c.1411-1919A>T | XP_005247968.1:n.1411-1919A>T | |
| XM_005247912.3:c.1015+64A>T | XP_005247969.1:n.1015+64A>T | |
| XM_011513335.3:c.1015+64A>T | XP_011511637.1:n.1015+64A>T | |
| XM_017007537.2:c.1015+64A>T | XP_016863026.1:n.1015+64A>T | |
| XM_017007539.2:c.1012-1919A>T | XP_016863028.1:n.1012-1919A>T | |
| XM_024453833.1:c.1015+64A>T | XP_024309601.1:n.1015+64A>T | |
| XM_024453834.1:c.1015+64A>T | XP_024309602.1:n.1015+64A>T | |
| XR_001740376.2:n.1546+64A>T | ||
| XR_001740377.2:n.1390-1919A>T | ||
| XR_001740378.2:n.1585+64A>T | ||
| XR_001740379.2:n.1436+64A>T | ||
| XR_001740380.2:n.1429-1919A>T | ||
| XR_001740381.2:n.1280-1919A>T | ||
| NM_001023570.4:c.1567+64A>T MANE Select | NP_001018864.2:n.1567+64A>T | |
| NM_001023571.4:c.1168+64A>T | NP_001018865.2:n.1168+64A>T | |
| NM_001319107.2:c.1567+64A>T | NP_001306036.1:n.1567+64A>T | |
| NR_134968.2:n.1652+64A>T |