Linked Data
ClinVar Variation Id:
294491
ClinVar RCV Id:
RCV000281469
RCV000338900
RCV000387444
RCV000404891
RCV001579194
RCV001521611
RCV002294226
dbSNP Id:
rs2274700
ExAC:
1:196682947 G / A
gnomAD v2:
1-196682947-G-A
gnomAD v3:
1-196713817-G-A
gnomAD v4:
1-196713817-G-A
PubMed:
PMID:16299065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196713817G>A , CM000663.2:g.196713817G>A | GRCh38 |
| NC_000001.10:g.196682947G>A , CM000663.1:g.196682947G>A | GRCh37 |
| NC_000001.9:g.194949570G>A | NCBI36 |
| NG_007259.1:g.66807G>A , LRG_47:g.66807G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.1685G>A | ||
| ENST00000695969.1:c.1419G>A | ENSP00000512296.1:p.Ala473= | |
| ENST00000695970.1:c.1419G>A | ENSP00000512297.1:p.Ala473= | |
| ENST00000695971.1:c.1398G>A | ENSP00000512298.1:p.Ala466= | |
| ENST00000695972.1:c.1419G>A | ENSP00000512299.1:p.Ala473= | |
| ENST00000695973.1:c.1419G>A | ENSP00000512300.1:p.Ala473= | |
| ENST00000695974.1:c.1419G>A | ENSP00000512301.1:p.Ala473= | |
| ENST00000695975.1:c.1419G>A | ENSP00000512302.1:p.Ala473= | |
| ENST00000695976.1:c.1230G>A | ENSP00000512303.1:p.Ala410= | |
| ENST00000695981.1:c.1419G>A | ENSP00000512306.1:p.Ala473= | |
| ENST00000695983.1:c.1419G>A | ENSP00000512308.1:p.Ala473= | |
| ENST00000695984.1:c.245-14529G>A | ENSP00000512309.1:n.245-14529G>A | |
| ENST00000695986.1:c.*1070G>A | ENSP00000512311.1:n.*1070G>A | |
| ENST00000696024.1:n.1503G>A | ||
| ENST00000696025.1:n.1503G>A | ||
| ENST00000696026.1:c.1419G>A | ENSP00000512335.1:p.Ala473= | |
| ENST00000696027.1:c.1419G>A | ENSP00000512336.1:p.Ala473= | |
| ENST00000696028.1:c.1419G>A | ENSP00000512337.1:p.Ala473= | |
| ENST00000696029.1:c.1419G>A | ENSP00000512338.1:p.Ala473= | |
| ENST00000696031.1:c.*937G>A | ENSP00000512340.1:n.*937G>A | |
| ENST00000696032.1:c.1419G>A | ENSP00000512341.1:p.Ala473= | |
| ENST00000696033.1:c.1159+24203G>A | ENSP00000512342.1:n.1159+24203G>A | |
| ENST00000367429.9:c.1419G>A MANE Select | ENSP00000356399.4:p.Ala473= | |
| ENST00000367429.8:c.1419G>A | ENSP00000356399.4:p.Ala473= | |
| ENST00000466229.5:n.3435G>A | ||
| NM_000186.3:c.1419G>A , LRG_47t1:c.1419G>A | NP_000177.2:p.Ala473= | |
| XR_001737134.2:n.1504G>A | ||
| NM_000186.4:c.1419G>A MANE Select | NP_000177.2:p.Ala473= |