Linked Data
ClinVar Variation Id:
294509
ClinVar RCV Id:
RCV000272281
RCV000307823
RCV000362551
RCV000406400
RCV001513114
RCV001579061
RCV001701991
RCV002294233
RCV002494911
dbSNP Id:
rs1065489
ExAC:
1:196709774 G / T
gnomAD v2:
1-196709774-G-T
gnomAD v3:
1-196740644-G-T
gnomAD v4:
1-196740644-G-T
PubMed:
PMID:14583443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196740644G>T , CM000663.2:g.196740644G>T | GRCh38 |
| NC_000001.10:g.196709774G>T , CM000663.1:g.196709774G>T | GRCh37 |
| NC_000001.9:g.194976397G>T | NCBI36 |
| NG_007259.1:g.93634G>T , LRG_47:g.93634G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.3074G>T | ||
| ENST00000695970.1:c.2783-1231G>T | ENSP00000512297.1:n.2783-1231G>T | |
| ENST00000695971.1:c.2787G>T | ENSP00000512298.1:p.Glu929Asp | |
| ENST00000695972.1:c.2233-20G>T | ENSP00000512299.1:n.2233-20G>T | |
| ENST00000695973.1:c.*1172G>T | ENSP00000512300.1:n.*1172G>T | |
| ENST00000695974.1:c.2631G>T | ENSP00000512301.1:p.Glu877Asp | |
| ENST00000695975.1:c.*935G>T | ENSP00000512302.1:n.*935G>T | |
| ENST00000695976.1:c.2619G>T | ENSP00000512303.1:p.Glu873Asp | |
| ENST00000695981.1:c.2808G>T | ENSP00000512306.1:p.Glu936Asp | |
| ENST00000695983.1:c.2808G>T | ENSP00000512308.1:p.Glu936Asp | |
| ENST00000695984.1:c.816G>T | ENSP00000512309.1:p.Glu272Asp | |
| ENST00000695986.1:c.*2459G>T | ENSP00000512311.1:n.*2459G>T | |
| ENST00000696025.1:n.2892G>T | ||
| ENST00000696026.1:c.*1090G>T | ENSP00000512335.1:n.*1090G>T | |
| ENST00000696027.1:c.2802G>T | ENSP00000512336.1:p.Glu934Asp | |
| ENST00000696028.1:c.2808G>T | ENSP00000512337.1:p.Glu936Asp | |
| ENST00000696029.1:c.2808G>T | ENSP00000512338.1:p.Glu936Asp | |
| ENST00000696031.1:c.*2326G>T | ENSP00000512340.1:n.*2326G>T | |
| ENST00000696032.1:c.2808G>T | ENSP00000512341.1:p.Glu936Asp | |
| ENST00000696033.1:c.1160-39153G>T | ENSP00000512342.1:n.1160-39153G>T | |
| ENST00000367429.9:c.2808G>T MANE Select | ENSP00000356399.4:p.Glu936Asp | |
| ENST00000367429.8:c.2808G>T | ENSP00000356399.4:p.Glu936Asp | |
| ENST00000466229.5:n.4824G>T | ||
| ENST00000470918.1:n.311G>T | ||
| NM_000186.3:c.2808G>T , LRG_47t1:c.2808G>T | NP_000177.2:p.Glu936Asp | |
| XR_001737134.2:n.2994G>T | ||
| NM_000186.4:c.2808G>T MANE Select | NP_000177.2:p.Glu936Asp |