Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045867G>T , CM000664.2:g.189045867G>T | GRCh38 |
| NC_000002.11:g.189910593G>T , CM000664.1:g.189910593G>T | GRCh37 |
| NC_000002.10:g.189618838G>T | NCBI36 |
| NG_011799.1:g.139013C>A | |
| NG_011799.2:g.139013C>A | |
| NG_011799.3:g.184435C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3242C>A MANE Select | ENSP00000364000.3:p.Ser1081Tyr | |
| ENST00000374866.7:c.3242C>A | ENSP00000364000.3:p.Ser1081Tyr | |
| ENST00000618828.1:c.2081C>A | ENSP00000482184.1:p.Ser694Tyr | |
| NM_000393.3:c.3242C>A | NP_000384.2:p.Ser1081Tyr | |
| XM_011510573.1:c.3104C>A | XP_011508875.1:p.Ser1035Tyr | |
| NM_000393.4:c.3242C>A | NP_000384.2:p.Ser1081Tyr | |
| XM_011510573.3:c.3104C>A | XP_011508875.1:p.Ser1035Tyr | |
| NM_000393.5:c.3242C>A MANE Select | NP_000384.2:p.Ser1081Tyr |