Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74085752C>T , CM000669.2:g.74085752C>T | GRCh38 |
| NC_000007.13:g.73500082C>T , CM000669.1:g.73500082C>T | GRCh37 |
| NC_000007.12:g.73138018C>T | NCBI36 |
| NG_008129.1:g.6927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336180.7:c.60C>T MANE Select | ENSP00000336740.2:p.Ser20= | |
| ENST00000336180.6:c.60C>T | ENSP00000336740.2:p.Ser20= | |
| ENST00000418310.5:c.150C>T | ENSP00000409717.1:p.Ser50= | |
| ENST00000435201.5:c.60C>T | ENSP00000414606.1:p.Ser20= | |
| NM_002314.3:c.60C>T | NP_002305.1:p.Ser20= | |
| NM_002314.4:c.60C>T MANE Select | NP_002305.1:p.Ser20= |