Linked Data
ClinVar Variation Id:
1349953
ClinVar RCV Id:
RCV002039390
dbSNP Id:
rs1272467526
gnomAD v2:
2-27590905-C-T
gnomAD v3:
2-27368038-C-T
gnomAD v4:
2-27368038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27368038C>T , CM000664.2:g.27368038C>T | GRCh38 |
| NC_000002.11:g.27590905C>T , CM000664.1:g.27590905C>T | GRCh37 |
| NC_000002.10:g.27444409C>T | NCBI36 |
| NG_009305.1:g.7420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.692G>A MANE Select | ENSP00000233552.6:p.Arg231His | |
| ENST00000347454.8:c.692G>A | ENSP00000233552.5:p.Arg231His | |
| ENST00000405940.6:c.666G>A | ENSP00000384375.2:p.Ser222= | |
| ENST00000417567.1:c.268G>A | ||
| ENST00000445933.6:c.689G>A | ENSP00000394397.2:p.Arg230His | |
| ENST00000451130.6:c.752G>A | ENSP00000394869.2:p.Arg251His | |
| ENST00000475582.5:n.1813G>A | ||
| ENST00000493344.6:c.755G>A | ENSP00000429323.1:p.Arg252His | |
| ENST00000616081.4:c.683G>A | ENSP00000477710.1:p.Arg228His | |
| ENST00000622434.4:c.647G>A | ENSP00000479991.1:p.Arg216His | |
| NM_001034116.1:c.692G>A | NP_001029288.1:p.Arg231His | |
| NM_015636.3:c.689G>A | NP_056451.3:p.Arg230His | |
| NM_172195.3:c.752G>A | NP_751945.2:p.Arg251His | |
| XM_005264632.1:c.647G>A | XP_005264689.1:p.Arg216His | |
| XM_006712132.1:c.644G>A | XP_006712195.1:p.Arg215His | |
| XM_011533147.1:c.74G>A | XP_011531449.1:p.Arg25His | |
| NM_001318965.1:c.755G>A | NP_001305894.1:p.Arg252His | |
| NM_001318966.1:c.647G>A | NP_001305895.1:p.Arg216His | |
| NM_001318967.1:c.599G>A | NP_001305896.1:p.Arg200His | |
| NM_001318968.1:c.107G>A | NP_001305897.1:p.Arg36His | |
| NM_001318969.1:c.74G>A | NP_001305898.1:p.Arg25His | |
| XM_011533147.2:c.74G>A | XP_011531449.1:p.Arg25His | |
| NM_001034116.2:c.692G>A MANE Select | NP_001029288.1:p.Arg231His | |
| NM_001318965.2:c.755G>A | NP_001305894.1:p.Arg252His | |
| NM_001318966.2:c.647G>A | NP_001305895.1:p.Arg216His | |
| NM_001318967.2:c.599G>A | NP_001305896.1:p.Arg200His | |
| NM_001318968.2:c.107G>A | NP_001305897.1:p.Arg36His | |
| NM_001318969.2:c.74G>A | NP_001305898.1:p.Arg25His | |
| NM_015636.4:c.689G>A | NP_056451.3:p.Arg230His | |
| NM_172195.4:c.752G>A | NP_751945.2:p.Arg251His |