gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.233204408A>T , CM000663.2:g.233204408A>T | GRCh38 |
| NC_000001.10:g.233340154A>T , CM000663.1:g.233340154A>T | GRCh37 |
| NC_000001.9:g.231406777A>T | NCBI36 |
| NG_050912.1:g.96328T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258229.14:c.2863+4110T>A MANE Select | ENSP00000258229.8:n.2863+4110T>A | |
| ENST00000258229.13:c.2863+4110T>A | ENSP00000258229.8:n.2863+4110T>A | |
| ENST00000324142.4:n.1070-2158T>A | ||
| ENST00000430153.5:c.262+4110T>A | ENSP00000394703.2:n.262+4110T>A | |
| ENST00000475463.6:c.1008+4110T>A | ||
| ENST00000488780.6:c.262+4110T>A | ENSP00000430820.1:n.262+4110T>A | |
| ENST00000517808.1:c.185+4110T>A | ||
| ENST00000518351.2:c.370+4110T>A | ENSP00000429231.1:n.370+4110T>A | |
| NM_014801.3:c.2863+4110T>A | NP_055616.3:n.2863+4110T>A | |
| XM_005273272.2:c.2254+4110T>A | XP_005273329.1:n.2254+4110T>A | |
| XM_006711816.2:c.2863+4110T>A | XP_006711879.1:n.2863+4110T>A | |
| XM_011544278.1:c.775+4110T>A | XP_011542580.1:n.775+4110T>A | |
| XR_247042.2:n.3093+4110T>A | ||
| XR_247102.1:n.198-1907A>T | ||
| XR_426918.2:n.3093+4110T>A | ||
| XR_426919.2:n.3093+4110T>A | ||
| XR_949159.1:n.3093+4110T>A | ||
| XR_949160.1:n.3093+4110T>A | ||
| XR_949161.1:n.3093+4110T>A | ||
| XM_006711816.3:c.2863+4110T>A | XP_006711879.1:n.2863+4110T>A | |
| XM_011544278.2:c.637+4110T>A | XP_011542580.2:n.637+4110T>A | |
| XM_017002391.1:c.2254+4110T>A | XP_016857880.1:n.2254+4110T>A | |
| XM_017002392.1:c.-425+4110T>A | XP_016857881.1:n.-425+4110T>A | |
| XR_001737429.1:n.2920+4110T>A | ||
| XR_001737430.1:n.2920+4110T>A | ||
| XR_001737431.1:n.2920+4110T>A | ||
| XR_001737432.2:n.3115+4110T>A | ||
| XR_247042.3:n.2920+4110T>A | ||
| XR_426919.3:n.2920+4110T>A | ||
| NM_014801.4:c.2863+4110T>A MANE Select | NP_055616.3:n.2863+4110T>A |