Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533781C>T , CM000681.2:g.7533781C>T | GRCh38 |
| NC_000019.9:g.7598667C>T , CM000681.1:g.7598667C>T | GRCh37 |
| NC_000019.8:g.7504667C>T | NCBI36 |
| NG_013374.1:g.4630C>T | |
| NG_015806.1:g.16172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1729C>T MANE Select | ENSP00000264079.5:p.Leu577= | |
| ENST00000264079.10:c.1729C>T | ENSP00000264079.5:p.Leu577= | |
| ENST00000394321.9:n.2044C>T | ||
| ENST00000599334.1:c.457C>T | ||
| ENST00000601870.1:c.82C>T | ||
| ENST00000602227.1:n.283C>T | ||
| NM_020533.2:c.1729C>T | NP_065394.1:p.Leu577= | |
| NM_020533.3:c.1729C>T MANE Select | NP_065394.1:p.Leu577= |