Linked Data
dbSNP Id:
rs774157246
ExAC:
9:34517343 G / A
gnomAD v2:
9-34517343-G-A
gnomAD v3:
9-34517345-G-A
gnomAD v4:
9-34517345-G-A
COSMIC:
COSM3657034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517345G>A , CM000671.2:g.34517345G>A | GRCh38 |
| NC_000009.11:g.34517343G>A , CM000671.1:g.34517343G>A | GRCh37 |
| NC_000009.10:g.34507343G>A | NCBI36 |
| NG_008127.1:g.63533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1879G>A MANE Select | ENSP00000242317.4:p.Ala627Thr | |
| ENST00000242317.8:c.1879G>A | ENSP00000242317.4:p.Ala627Thr | |
| ENST00000442556.1:c.329+2606G>A | ||
| ENST00000470169.5:c.667G>A | ||
| ENST00000485580.1:n.455G>A | ||
| ENST00000614641.4:c.1891G>A | ENSP00000480538.1:p.Ala631Thr | |
| NM_001281428.1:c.1891G>A | NP_001268357.1:p.Ala631Thr | |
| NM_012144.3:c.1879G>A | NP_036276.1:p.Ala627Thr | |
| XM_006716758.2:c.1348G>A | XP_006716821.1:p.Ala450Thr | |
| XM_011517848.1:c.1633G>A | XP_011516150.1:p.Ala545Thr | |
| XM_006716758.3:c.1348G>A | XP_006716821.1:p.Ala450Thr | |
| XM_011517848.2:c.1633G>A | XP_011516150.1:p.Ala545Thr | |
| XM_017014625.2:c.1621G>A | XP_016870114.1:p.Ala541Thr | |
| XR_002956774.1:n.1982G>A | ||
| NM_012144.4:c.1879G>A MANE Select | NP_036276.1:p.Ala627Thr | |
| NM_001281428.2:c.1891G>A | NP_001268357.1:p.Ala631Thr |