Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852835C>T , CM000674.2:g.102852835C>T | GRCh38 |
| NC_000012.11:g.103246613C>T , CM000674.1:g.103246613C>T | GRCh37 |
| NC_000012.10:g.101770743C>T | NCBI36 |
| NG_008690.1:g.69768G>A | |
| NG_008690.2:g.110576G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.822G>A MANE Select | NP_000268.1:p.Lys274= |
| ENST00000553106.6:c.822G>A MANE Select | ENSP00000448059.1:p.Lys274= |
| NM_000277.1:c.822G>A | NP_000268.1:p.Lys274= |
| NM_000277.2:c.822G>A | NP_000268.1:p.Lys274= |
| NM_001354304.1:c.822G>A | NP_001341233.1:p.Lys274= |
| NM_001354304.2:c.822G>A | NP_001341233.1:p.Lys274= |
| ENST00000307000.7:c.807G>A | ENSP00000303500.2:p.Lys269= |
| ENST00000549247.6:n.581G>A | |
| ENST00000553106.5:c.822G>A | ENSP00000448059.1:p.Lys274= |
| XM_011538422.1:c.822G>A | XP_011536724.1:p.Lys274= |