Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100803476C>T , CM000669.2:g.100803476C>T | GRCh38 |
| NC_000007.13:g.100401098C>T , CM000669.1:g.100401098C>T | GRCh37 |
| NC_000007.12:g.100239034C>T | NCBI36 |
| NG_052671.1:g.29046G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.2949G>A MANE Select | NP_004435.3:p.Pro983= |
| ENST00000358173.8:c.2949G>A MANE Select | ENSP00000350896.3:p.Pro983= |
| NM_004444.4:c.2949G>A | NP_004435.3:p.Pro983= |
| ENST00000358173.7:c.2949G>A | ENSP00000350896.3:p.Pro983= |
| ENST00000360620.7:c.2793G>A | ENSP00000353833.3:p.Pro931= |
| ENST00000487222.5:n.4150G>A | |
| ENST00000616502.4:c.*1414G>A | ENSP00000482702.1:n.*1414G>A |
| XM_017011816.1:c.3003G>A | XP_016867305.1:p.Pro1001= |