Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852820G>C , CM000674.2:g.102852820G>C | GRCh38 |
| NC_000012.11:g.103246598G>C , CM000674.1:g.103246598G>C | GRCh37 |
| NC_000012.10:g.101770728G>C | NCBI36 |
| NG_008690.1:g.69783C>G | |
| NG_008690.2:g.110591C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.837C>G MANE Select | ENSP00000448059.1:p.Pro279= | |
| ENST00000307000.7:c.822C>G | ENSP00000303500.2:p.Pro274= | |
| ENST00000549247.6:n.596C>G | ||
| ENST00000553106.5:c.837C>G | ENSP00000448059.1:p.Pro279= | |
| NM_000277.1:c.837C>G | NP_000268.1:p.Pro279= | |
| XM_011538422.1:c.837C>G | XP_011536724.1:p.Pro279= | |
| NM_000277.2:c.837C>G | NP_000268.1:p.Pro279= | |
| NM_001354304.1:c.837C>G | NP_001341233.1:p.Pro279= | |
| NM_000277.3:c.837C>G MANE Select | NP_000268.1:p.Pro279= | |
| NM_001354304.2:c.837C>G | NP_001341233.1:p.Pro279= |