Linked Data
ClinVar Variation Id:
4120
ClinVar RCV Id:
RCV003221396
dbSNP Id:
rs113994027
gnomAD v2:
2-27590914-G-A
gnomAD v4:
2-27368047-G-A
PubMed:
PMID:11835386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27368047G>A , CM000664.2:g.27368047G>A | GRCh38 |
| NC_000002.11:g.27590914G>A , CM000664.1:g.27590914G>A | GRCh37 |
| NC_000002.10:g.27444418G>A | NCBI36 |
| NG_009305.1:g.7411C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.683C>T MANE Select | ENSP00000233552.6:p.Ala228Val | |
| ENST00000347454.8:c.683C>T | ENSP00000233552.5:p.Ala228Val | |
| ENST00000405940.6:c.657C>T | ENSP00000384375.2:p.Cys219= | |
| ENST00000417567.1:c.259C>T | ||
| ENST00000445933.6:c.680C>T | ENSP00000394397.2:p.Ala227Val | |
| ENST00000451130.6:c.743C>T | ENSP00000394869.2:p.Ala248Val | |
| ENST00000475582.5:n.1804C>T | ||
| ENST00000493344.6:c.746C>T | ENSP00000429323.1:p.Ala249Val | |
| ENST00000616081.4:c.674C>T | ENSP00000477710.1:p.Ala225Val | |
| ENST00000622434.4:c.638C>T | ENSP00000479991.1:p.Ala213Val | |
| NM_001034116.1:c.683C>T | NP_001029288.1:p.Ala228Val | |
| NM_015636.3:c.680C>T | NP_056451.3:p.Ala227Val | |
| NM_172195.3:c.743C>T | NP_751945.2:p.Ala248Val | |
| XM_005264632.1:c.638C>T | XP_005264689.1:p.Ala213Val | |
| XM_006712132.1:c.635C>T | XP_006712195.1:p.Ala212Val | |
| XM_011533147.1:c.65C>T | XP_011531449.1:p.Ala22Val | |
| NM_001318965.1:c.746C>T | NP_001305894.1:p.Ala249Val | |
| NM_001318966.1:c.638C>T | NP_001305895.1:p.Ala213Val | |
| NM_001318967.1:c.590C>T | NP_001305896.1:p.Ala197Val | |
| NM_001318968.1:c.98C>T | NP_001305897.1:p.Ala33Val | |
| NM_001318969.1:c.65C>T | NP_001305898.1:p.Ala22Val | |
| XM_011533147.2:c.65C>T | XP_011531449.1:p.Ala22Val | |
| NM_001034116.2:c.683C>T MANE Select | NP_001029288.1:p.Ala228Val | |
| NM_001318965.2:c.746C>T | NP_001305894.1:p.Ala249Val | |
| NM_001318966.2:c.638C>T | NP_001305895.1:p.Ala213Val | |
| NM_001318967.2:c.590C>T | NP_001305896.1:p.Ala197Val | |
| NM_001318968.2:c.98C>T | NP_001305897.1:p.Ala33Val | |
| NM_001318969.2:c.65C>T | NP_001305898.1:p.Ala22Val | |
| NM_015636.4:c.680C>T | NP_056451.3:p.Ala227Val | |
| NM_172195.4:c.743C>T | NP_751945.2:p.Ala248Val |