Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565631C>T , CM000682.2:g.57565631C>T | GRCh38 |
| NC_000020.10:g.56140687C>T , CM000682.1:g.56140687C>T | GRCh37 |
| NC_000020.9:g.55574093C>T | NCBI36 |
| NG_008205.1:g.9551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1696C>T MANE Select | ENSP00000319814.4:p.Leu566= | |
| ENST00000319441.5:c.1696C>T | ENSP00000319814.4:p.Leu566= | |
| ENST00000467047.1:n.4338C>T | ||
| NM_002591.3:c.1696C>T | NP_002582.3:p.Leu566= | |
| XM_011528839.1:c.1300C>T | XP_011527141.1:p.Leu434= | |
| XM_024451888.1:c.1300C>T | XP_024307656.1:p.Leu434= | |
| NM_002591.4:c.1696C>T MANE Select | NP_002582.3:p.Leu566= |