Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211479207C>T , CM000663.2:g.211479207C>T | GRCh38 |
| NC_000001.10:g.211652549C>T , CM000663.1:g.211652549C>T | GRCh37 |
| NC_000001.9:g.209719172C>T | NCBI36 |
| NG_013042.1:g.18711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.417G>A | ENSP00000355969.4:p.Thr139= | |
| ENST00000680073.1:c.417G>A MANE Select | ENSP00000505312.1:p.Thr139= | |
| ENST00000367002.4:c.417G>A | ENSP00000355969.4:p.Thr139= | |
| ENST00000484910.1:n.385G>A | ||
| NM_001164688.1:c.417G>A | NP_001158160.1:p.Thr139= | |
| NM_183059.2:c.417G>A | NP_898882.1:p.Thr139= | |
| XM_011509479.1:c.417G>A | XP_011507781.1:p.Thr139= | |
| XM_017001151.1:c.453G>A | XP_016856640.1:p.Thr151= | |
| NM_183059.3:c.417G>A | NP_898882.1:p.Thr139= | |
| NM_001164688.2:c.417G>A MANE Select | NP_001158160.1:p.Thr139= |