Linked Data
ClinVar Variation Id:
284841
ClinVar RCV Id:
RCV000326645
dbSNP Id:
rs528551338
ExAC:
1:181021552 G / A
gnomAD v2:
1-181021552-G-A
gnomAD v3:
1-181052416-G-A
gnomAD v4:
1-181052416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.181052416G>A , CM000663.2:g.181052416G>A | GRCh38 |
| NC_000001.10:g.181021552G>A , CM000663.1:g.181021552G>A | GRCh37 |
| NC_000001.9:g.179288175G>A | NCBI36 |
| NG_042221.1:g.23992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434571.7:c.604+2130G>A | ENSP00000388504.2:n.604+2130G>A | |
| ENST00000614012.5:c.786G>A | ENSP00000477563.1:p.Ala262= | |
| ENST00000617803.5:c.699G>A | ENSP00000478976.2:p.Ala233= | |
| ENST00000683652.1:c.68-2809G>A | ENSP00000507049.1:n.68-2809G>A | |
| ENST00000367580.6:c.786G>A MANE Select | ENSP00000356552.5:p.Ala262= | |
| ENST00000282990.10:c.605-1157G>A | ENSP00000282990.6:n.605-1157G>A | |
| ENST00000367579.7:c.651G>A | ENSP00000356551.3:p.Ala217= | |
| ENST00000367580.5:c.786G>A | ENSP00000356552.5:p.Ala262= | |
| ENST00000434571.6:c.604+2130G>A | ENSP00000388504.2:n.604+2130G>A | |
| ENST00000438435.6:n.719-1157G>A | ||
| ENST00000614012.4:c.786G>A | ENSP00000477563.1:p.Ala262= | |
| ENST00000617803.4:c.605-1157G>A | ENSP00000478976.1:n.605-1157G>A | |
| NM_001194999.1:c.651G>A | NP_001181928.1:p.Ala217= | |
| NM_001195000.1:c.605-1157G>A | NP_001181929.1:n.605-1157G>A | |
| NM_001195035.1:c.604+2130G>A | NP_001181964.1:n.604+2130G>A | |
| NM_001310213.1:c.392-1157G>A | NP_001297142.1:n.392-1157G>A | |
| NM_001531.2:c.786G>A | NP_001522.1:p.Ala262= | |
| XM_006711286.2:c.699G>A | XP_006711349.1:p.Ala233= | |
| XM_011509462.1:c.573G>A | XP_011507764.1:p.Ala191= | |
| XM_011509463.1:c.525G>A | XP_011507765.1:p.Ala175= | |
| XM_011509463.2:c.525G>A | XP_011507765.1:p.Ala175= | |
| XM_024446611.1:c.699G>A | XP_024302379.1:p.Ala233= | |
| NM_001194999.2:c.651G>A | NP_001181928.1:p.Ala217= | |
| NM_001195000.2:c.605-1157G>A | NP_001181929.1:n.605-1157G>A | |
| NM_001195035.2:c.604+2130G>A | NP_001181964.1:n.604+2130G>A | |
| NM_001310213.2:c.392-1157G>A | NP_001297142.1:n.392-1157G>A | |
| NM_001385161.1:c.786G>A MANE Select | NP_001372090.1:p.Ala262= | |
| NM_001385162.1:c.699G>A | NP_001372091.1:p.Ala233= | |
| NM_001385164.1:c.605-1157G>A | NP_001372093.1:n.605-1157G>A | |
| NM_001531.3:c.786G>A | NP_001522.1:p.Ala262= |