Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19257952G>A , CM000681.2:g.19257952G>A | GRCh38 |
| NC_000019.9:g.19368761G>A , CM000681.1:g.19368761G>A | GRCh37 |
| NC_000019.8:g.19229761G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291481.8:c.1074C>T MANE Select | ENSP00000291481.5:p.Leu358= | |
| ENST00000291481.7:c.1074C>T | ENSP00000291481.5:p.Leu358= | |
| NM_023002.2:c.1074C>T | NP_075378.1:p.Leu358= | |
| NM_023002.3:c.1074C>T MANE Select | NP_075378.1:p.Leu358= |