Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100667277T>A , CM000685.2:g.100667277T>A | GRCh38 |
| NC_000023.10:g.99922274T>A , CM000685.1:g.99922274T>A | GRCh37 |
| NC_000023.9:g.99808930T>A | NCBI36 |
| NG_021337.1:g.28112T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.965T>A MANE Select | ENSP00000362095.3:p.Met322Lys | |
| ENST00000638920.1:n.968T>A | ||
| ENST00000640282.1:c.11T>A | ENSP00000491188.1:p.Met4Lys | |
| ENST00000677630.1:n.899T>A | ||
| ENST00000679590.1:n.998T>A | ||
| ENST00000373004.3:c.965T>A | ENSP00000362095.3:p.Met322Lys | |
| NM_014467.2:c.965T>A | NP_055282.1:p.Met322Lys | |
| XM_005262121.2:c.965T>A | XP_005262178.1:p.Met322Lys | |
| NM_014467.3:c.965T>A MANE Select | NP_055282.1:p.Met322Lys |