gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70432151C>A , CM000663.2:g.70432151C>A | GRCh38 |
| NC_000001.10:g.70897834C>A , CM000663.1:g.70897834C>A | GRCh37 |
| NC_000001.9:g.70670422C>A | NCBI36 |
| NG_008041.1:g.25880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.793C>A MANE Select | ENSP00000359976.3:p.Arg265= | |
| ENST00000346806.2:c.661C>A | ENSP00000311554.2:p.Arg221= | |
| ENST00000370938.7:c.793C>A | ENSP00000359976.3:p.Arg265= | |
| ENST00000411986.6:c.697C>A | ENSP00000413407.2:p.Arg233= | |
| NM_001190463.1:c.697C>A | NP_001177392.1:p.Arg233= | |
| NM_001902.5:c.793C>A | NP_001893.2:p.Arg265= | |
| NM_153742.4:c.661C>A | NP_714964.2:p.Arg221= | |
| XM_005270509.2:c.466C>A | XP_005270566.1:p.Arg156= | |
| XM_011540787.1:c.223C>A | XP_011539089.1:p.Arg75= | |
| XM_005270509.3:c.466C>A | XP_005270566.1:p.Arg156= | |
| XM_017000416.2:c.223C>A | XP_016855905.1:p.Arg75= | |
| NM_001902.6:c.793C>A MANE Select | NP_001893.2:p.Arg265= | |
| NM_001190463.2:c.697C>A | NP_001177392.1:p.Arg233= | |
| NM_153742.5:c.661C>A | NP_714964.2:p.Arg221= |