gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27368105G>A , CM000664.2:g.27368105G>A | GRCh38 |
| NC_000002.11:g.27590972G>A , CM000664.1:g.27590972G>A | GRCh37 |
| NC_000002.10:g.27444476G>A | NCBI36 |
| NG_009305.1:g.7353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.625C>T MANE Select | ENSP00000233552.6:p.Arg209Ter | |
| ENST00000347454.8:c.625C>T | ENSP00000233552.5:p.Arg209Ter | |
| ENST00000405940.6:c.599C>T | ENSP00000384375.2:p.Ala200Val | |
| ENST00000417567.1:c.201C>T | ||
| ENST00000445933.6:c.622C>T | ENSP00000394397.2:p.Arg208Ter | |
| ENST00000451130.6:c.685C>T | ENSP00000394869.2:p.Arg229Ter | |
| ENST00000475582.5:n.1746C>T | ||
| ENST00000493344.6:c.688C>T | ENSP00000429323.1:p.Arg230Ter | |
| ENST00000616081.4:c.616C>T | ENSP00000477710.1:p.Arg206Ter | |
| ENST00000622434.4:c.580C>T | ENSP00000479991.1:p.Arg194Ter | |
| NM_001034116.1:c.625C>T | NP_001029288.1:p.Arg209Ter | |
| NM_015636.3:c.622C>T | NP_056451.3:p.Arg208Ter | |
| NM_172195.3:c.685C>T | NP_751945.2:p.Arg229Ter | |
| XM_005264632.1:c.580C>T | XP_005264689.1:p.Arg194Ter | |
| XM_006712132.1:c.577C>T | XP_006712195.1:p.Arg193Ter | |
| XM_011533147.1:c.7C>T | XP_011531449.1:p.Arg3Ter | |
| NM_001318965.1:c.688C>T | NP_001305894.1:p.Arg230Ter | |
| NM_001318966.1:c.580C>T | NP_001305895.1:p.Arg194Ter | |
| NM_001318967.1:c.532C>T | NP_001305896.1:p.Arg178Ter | |
| NM_001318968.1:c.40C>T | NP_001305897.1:p.Arg14Ter | |
| NM_001318969.1:c.7C>T | NP_001305898.1:p.Arg3Ter | |
| XM_011533147.2:c.7C>T | XP_011531449.1:p.Arg3Ter | |
| NM_001034116.2:c.625C>T MANE Select | NP_001029288.1:p.Arg209Ter | |
| NM_001318965.2:c.688C>T | NP_001305894.1:p.Arg230Ter | |
| NM_001318966.2:c.580C>T | NP_001305895.1:p.Arg194Ter | |
| NM_001318967.2:c.532C>T | NP_001305896.1:p.Arg178Ter | |
| NM_001318968.2:c.40C>T | NP_001305897.1:p.Arg14Ter | |
| NM_001318969.2:c.7C>T | NP_001305898.1:p.Arg3Ter | |
| NM_015636.4:c.622C>T | NP_056451.3:p.Arg208Ter | |
| NM_172195.4:c.685C>T | NP_751945.2:p.Arg229Ter |