Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341441A= , CM000665.2:g.122341441A= | GRCh38 |
| NC_000003.11:g.122060288A= , CM000665.1:g.122060288A= | GRCh37 |
| NC_000003.10:g.123542978A= | NCBI36 |
| NG_027995.1:g.21278A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.171A= MANE Select | ENSP00000264474.3:p.Val57= | |
| ENST00000264474.3:c.171A= | ENSP00000264474.3:p.Val57= | |
| NM_005213.3:c.171A= | NP_005204.1:p.Val57= | |
| NM_005213.4:c.171A= MANE Select | NP_005204.1:p.Val57= |