Linked Data
dbSNP Id:
rs72791417
gnomAD v2:
10-67743654-A-T
gnomAD v3:
10-65983896-A-T
gnomAD v4:
10-65983896-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.65983896A>T , CM000672.2:g.65983896A>T | GRCh38 |
| NC_000010.10:g.67743654A>T , CM000672.1:g.67743654A>T | GRCh37 |
| NC_000010.9:g.67413660A>T | NCBI36 |
| NG_034072.1:g.1717296T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373735.2:n.441+4796T>A | ||
| ENST00000682758.1:c.2265+4796T>A | ENSP00000508047.1:n.2265+4796T>A | |
| ENST00000682945.1:c.2064+4796T>A | ENSP00000506843.1:n.2064+4796T>A | |
| ENST00000683624.1:c.*1804+4796T>A | ENSP00000507406.1:n.*1804+4796T>A | |
| ENST00000683963.1:c.*1789+4796T>A | ENSP00000507029.1:n.*1789+4796T>A | |
| ENST00000684154.1:c.2265+4796T>A | ENSP00000508371.1:n.2265+4796T>A | |
| ENST00000433211.7:c.2265+4796T>A MANE Select | ENSP00000389714.1:n.2265+4796T>A | |
| ENST00000373735.1:n.441+4796T>A | ||
| ENST00000433211.6:c.2265+4796T>A | ENSP00000389714.1:n.2265+4796T>A | |
| NM_001127384.2:c.2265+4796T>A | NP_001120856.1:n.2265+4796T>A | |
| NM_013266.3:c.2265+4796T>A | NP_037398.2:n.2265+4796T>A | |
| XM_005269717.2:c.2301+4796T>A | XP_005269774.1:n.2301+4796T>A | |
| XM_017016151.1:c.2334+4796T>A | XP_016871640.1:n.2334+4796T>A | |
| XM_017016152.1:c.2490+4796T>A | XP_016871641.1:n.2490+4796T>A | |
| XM_017016153.1:c.2301+4796T>A | XP_016871642.1:n.2301+4796T>A | |
| XM_017016154.1:c.1482+4796T>A | XP_016871643.1:n.1482+4796T>A | |
| XM_017016155.2:c.1482+4796T>A | XP_016871644.1:n.1482+4796T>A | |
| XM_017016156.1:c.1482+4796T>A | XP_016871645.1:n.1482+4796T>A | |
| XM_017016157.2:c.1170+4796T>A | XP_016871646.1:n.1170+4796T>A | |
| NM_013266.4:c.2265+4796T>A MANE Select | NP_037398.2:n.2265+4796T>A | |
| NM_001127384.3:c.2265+4796T>A | NP_001120856.1:n.2265+4796T>A |