Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74121193C>T , CM000669.2:g.74121193C>T | GRCh38 |
| NC_000007.13:g.73535523C>T , CM000669.1:g.73535523C>T | GRCh37 |
| NC_000007.12:g.73173459C>T | NCBI36 |
| NG_008129.1:g.42368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336180.7:c.1836C>T MANE Select | ENSP00000336740.2:p.Ala612= | |
| ENST00000336180.6:c.1836C>T | ENSP00000336740.2:p.Ala612= | |
| ENST00000418310.5:c.1926C>T | ENSP00000409717.1:p.Ala642= | |
| ENST00000435201.5:c.1775C>T | ENSP00000414606.1:n.1775C>T | |
| ENST00000538333.3:c.1734C>T | ENSP00000444452.1:p.Ala578= | |
| NM_001204426.1:c.1734C>T | NP_001191355.1:p.Ala578= | |
| NM_002314.3:c.1836C>T | NP_002305.1:p.Ala612= | |
| NM_002314.4:c.1836C>T MANE Select | NP_002305.1:p.Ala612= | |
| NM_001204426.2:c.1734C>T | NP_001191355.1:p.Ala578= |