Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126807G= , CM000681.2:g.9126807G= | GRCh38 |
| NC_000019.9:g.9237483G= , CM000681.1:g.9237483G= | GRCh37 |
| NC_000019.8:g.9098483G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.144C= MANE Select | ENSP00000302867.2:p.Ala48= | |
| NM_001001958.1:c.144C= MANE Select | NP_001001958.1:p.Ala48= |