Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78329391A>T , CM000671.2:g.78329391A>T | GRCh38 |
| NC_000009.11:g.80944307A>T , CM000671.1:g.80944307A>T | GRCh37 |
| NC_000009.10:g.80134127A>T | NCBI36 |
| NG_012165.1:g.37249A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058179.4:c.*305A>T MANE Select | NP_478059.1:n.*305A>T |
| ENST00000376588.4:c.*305A>T MANE Select | ENSP00000365773.3:n.*305A>T |
| NM_021154.4:c.*305A>T | NP_066977.1:n.*305A>T |
| NM_021154.5:c.*305A>T | NP_066977.1:n.*305A>T |
| NM_058179.3:c.*305A>T | NP_478059.1:n.*305A>T |
| ENST00000347159.6:c.*305A>T | ENSP00000317606.2:n.*305A>T |
| ENST00000376588.3:c.*305A>T | ENSP00000365773.3:n.*305A>T |