Linked Data
dbSNP Id:
rs922256503
gnomAD v2:
8-11421474-A-G
gnomAD v3:
8-11563965-A-G
gnomAD v4:
8-11563965-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11563965A>G , CM000670.2:g.11563965A>G | GRCh38 |
| NC_000008.10:g.11421474A>G , CM000670.1:g.11421474A>G | GRCh37 |
| NC_000008.9:g.11458883A>G | NCBI36 |
| NG_023543.1:g.74954A>G | |
| NG_023543.2:g.74954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1483A>G | ||
| ENST00000696154.1:c.*693A>G | ENSP00000512445.1:n.*693A>G | |
| ENST00000696155.1:n.259A>G | ||
| ENST00000259089.9:c.1375A>G MANE Select | ENSP00000259089.4:p.Thr459Ala | |
| ENST00000645242.1:c.1162A>G | ENSP00000494690.1:p.Thr388Ala | |
| ENST00000259089.8:c.1375A>G | ENSP00000259089.4:p.Thr459Ala | |
| ENST00000526097.1:n.1315A>G | ||
| ENST00000529894.1:c.1162A>G | ENSP00000433663.1:p.Thr388Ala | |
| NM_001715.2:c.1375A>G | NP_001706.2:p.Thr459Ala | |
| XM_011543824.1:c.1453A>G | XP_011542126.1:p.Thr485Ala | |
| XM_011543825.1:c.1453A>G | XP_011542127.1:p.Thr485Ala | |
| XM_011543826.1:c.1453A>G | XP_011542128.1:p.Thr485Ala | |
| XM_011543827.1:c.1240A>G | XP_011542129.1:p.Thr414Ala | |
| NM_001330465.1:c.1162A>G | NP_001317394.1:p.Thr388Ala | |
| XM_011543825.3:c.1453A>G | XP_011542127.1:p.Thr485Ala | |
| NM_001715.3:c.1375A>G MANE Select | NP_001706.2:p.Thr459Ala | |
| NM_001330465.2:c.1162A>G | NP_001317394.1:p.Thr388Ala |