Linked Data
dbSNP Id:
rs780690860
ExAC:
8:77776565 G / A
gnomAD v2:
8-77776565-G-A
gnomAD v4:
8-76864329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76864329G>A , CM000670.2:g.76864329G>A | GRCh38 |
| NC_000008.10:g.77776565G>A , CM000670.1:g.77776565G>A | GRCh37 |
| NC_000008.9:g.77939120G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651372.2:c.10615G>A MANE Select | ENSP00000498627.1:p.Ala3539Thr | |
| ENST00000518282.5:c.10537G>A | ENSP00000430848.1:p.Ala3513Thr | |
| ENST00000521891.6:c.10615G>A | ENSP00000430497.2:p.Ala3539Thr | |
| NM_024721.4:c.10615G>A | NP_078997.4:p.Ala3539Thr | |
| XM_011517592.1:c.10615G>A | XP_011515894.1:p.Ala3539Thr | |
| XM_011517593.1:c.10615G>A | XP_011515895.1:p.Ala3539Thr | |
| XM_011517594.1:c.10615G>A | XP_011515896.1:p.Ala3539Thr | |
| XM_011517595.1:c.10615G>A | XP_011515897.1:p.Ala3539Thr | |
| XM_011517596.1:c.10537G>A | XP_011515898.1:p.Ala3513Thr | |
| XM_011517597.1:c.10498G>A | XP_011515899.1:p.Ala3500Thr | |
| XM_011517592.3:c.10615G>A | XP_011515894.1:p.Ala3539Thr | |
| XM_011517593.2:c.10615G>A | XP_011515895.1:p.Ala3539Thr | |
| XM_011517594.2:c.10615G>A | XP_011515896.1:p.Ala3539Thr | |
| XM_011517595.2:c.10615G>A | XP_011515897.1:p.Ala3539Thr | |
| XM_011517596.2:c.10537G>A | XP_011515898.1:p.Ala3513Thr | |
| XM_011517597.2:c.10498G>A | XP_011515899.1:p.Ala3500Thr | |
| XM_017013845.1:c.10420G>A | XP_016869334.1:p.Ala3474Thr | |
| NM_024721.5:c.10615G>A MANE Select | NP_078997.4:p.Ala3539Thr |