Linked Data
dbSNP Id:
rs1020261063
gnomAD v2:
16-5077981-T-A
gnomAD v3:
16-5027980-T-A
gnomAD v4:
16-5027980-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5027980T>A , CM000678.2:g.5027980T>A | GRCh38 |
| NC_000016.9:g.5077981T>A , CM000678.1:g.5077981T>A | GRCh37 |
| NC_000016.8:g.5017982T>A | NCBI36 |
| NG_028152.1:g.10962A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.1126A>T MANE Select | ENSP00000310998.3:p.Thr376Ser | |
| ENST00000649828.1:c.*298A>T | ENSP00000498032.1:n.*298A>T | |
| ENST00000312251.7:c.1126A>T | ENSP00000310998.3:p.Thr376Ser | |
| ENST00000381955.7:c.1126A>T | ENSP00000371381.3:p.Thr376Ser | |
| ENST00000562746.5:c.*298A>T | ENSP00000455900.1:n.*298A>T | |
| ENST00000563578.5:c.738+900A>T | ||
| ENST00000564397.5:n.2179A>T | ||
| ENST00000565876.5:c.481-601A>T | ||
| ENST00000566137.5:n.424A>T | ||
| ENST00000567739.5:n.445A>T | ||
| ENST00000568202.5:n.989A>T | ||
| ENST00000569296.5:c.739A>T | ENSP00000465949.1:n.739A>T | |
| NM_016256.3:c.1126A>T | NP_057340.2:p.Thr376Ser | |
| XM_011522517.1:c.1126A>T | XP_011520819.1:p.Thr376Ser | |
| XR_243285.1:n.1222A>T | ||
| XM_011522517.3:c.1126A>T | XP_011520819.1:p.Thr376Ser | |
| XR_001751908.2:n.1221A>T | ||
| XR_001751909.2:n.1225A>T | ||
| XR_001751910.2:n.1254A>T | ||
| XR_001751911.2:n.1254A>T | ||
| XR_001751912.2:n.1258A>T | ||
| NM_016256.4:c.1126A>T MANE Select | NP_057340.2:p.Thr376Ser |