Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981147C>T , CM000674.2:g.48981147C>T | GRCh38 |
| NC_000012.11:g.49374930C>T , CM000674.1:g.49374930C>T | GRCh37 |
| NC_000012.10:g.47661197C>T | NCBI36 |
| NG_033141.1:g.7695C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.625-5C>T MANE Select | NP_005421.1:n.625-5C>T |
| ENST00000293549.4:c.625-5C>T MANE Select | ENSP00000293549.3:n.625-5C>T |
| NM_005430.3:c.625-5C>T | NP_005421.1:n.625-5C>T |
| ENST00000293549.3:c.625-5C>T | ENSP00000293549.3:n.625-5C>T |
| ENST00000613114.4:c.625-5C>T | ENSP00000481240.1:n.625-5C>T |