Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56451358C>T , CM000674.2:g.56451358C>T | GRCh38 |
| NC_000012.11:g.56845142C>T , CM000674.1:g.56845142C>T | GRCh37 |
| NC_000012.10:g.55131409C>T | NCBI36 |
| NG_021397.1:g.8294G>A | |
| NG_021397.2:g.22809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*338G>A | ENSP00000497190.1:n.*338G>A | |
| ENST00000648442.1:n.847G>A | ||
| ENST00000652304.1:c.714G>A MANE Select | ENSP00000498622.1:p.Lys238= | |
| ENST00000257979.4:c.714G>A | ENSP00000257979.4:p.Lys238= | |
| NM_012064.3:c.714G>A | NP_036196.1:p.Lys238= | |
| XM_011538354.1:c.429G>A | XP_011536656.1:p.Lys143= | |
| NM_012064.4:c.714G>A MANE Select | NP_036196.1:p.Lys238= | |
| XM_017019306.1:c.357G>A | XP_016874795.1:p.Lys119= |