Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855146C>T , CM000674.2:g.102855146C>T | GRCh38 |
| NC_000012.11:g.103248924C>T , CM000674.1:g.103248924C>T | GRCh37 |
| NC_000012.10:g.101773054C>T | NCBI36 |
| NG_008690.2:g.108265G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.696G>A MANE Select | NP_000268.1:p.Gln232= |
| ENST00000553106.6:c.696G>A MANE Select | ENSP00000448059.1:p.Gln232= |
| NM_000277.2:c.696G>A | NP_000268.1:p.Gln232= |
| NM_001354304.1:c.696G>A | NP_001341233.1:p.Gln232= |
| NM_001354304.2:c.696G>A | NP_001341233.1:p.Gln232= |
| ENST00000307000.7:c.681G>A | ENSP00000303500.2:p.Gln227= |
| ENST00000549111.5:n.792G>A | |
| ENST00000553106.5:c.696G>A | ENSP00000448059.1:p.Gln232= |
| XM_011538422.1:c.696G>A | XP_011536724.1:p.Gln232= |
| XM_017019370.2:c.696G>A | XP_016874859.1:p.Gln232= |