Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562868C>G , CM000682.2:g.57562868C>G | GRCh38 |
| NC_000020.10:g.56137924C>G , CM000682.1:g.56137924C>G | GRCh37 |
| NC_000020.9:g.55571330C>G | NCBI36 |
| NG_008205.1:g.6788C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.579C>G MANE Select | ENSP00000319814.4:p.Leu193= | |
| ENST00000319441.5:c.579C>G | ENSP00000319814.4:p.Leu193= | |
| ENST00000467047.1:n.1789C>G | ||
| ENST00000470051.1:n.35C>G | ||
| ENST00000498194.1:n.521C>G | ||
| NM_002591.3:c.579C>G | NP_002582.3:p.Leu193= | |
| XM_011528839.1:c.183C>G | XP_011527141.1:p.Leu61= | |
| XM_024451888.1:c.183C>G | XP_024307656.1:p.Leu61= | |
| NM_002591.4:c.579C>G MANE Select | NP_002582.3:p.Leu193= |