Linked Data
ClinVar Variation Id:
294497
dbSNP Id:
rs143237092
ExAC:
1:196695675 G / T
gnomAD v2:
1-196695675-G-T
gnomAD v3:
1-196726545-G-T
gnomAD v4:
1-196726545-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196726545G>T , CM000663.2:g.196726545G>T | GRCh38 |
| NC_000001.10:g.196695675G>T , CM000663.1:g.196695675G>T | GRCh37 |
| NC_000001.9:g.194962298G>T | NCBI36 |
| NG_007259.1:g.79535G>T , LRG_47:g.79535G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.2215G>T | ||
| ENST00000695969.1:c.1949G>T | ENSP00000512296.1:p.Gly650Val | |
| ENST00000695970.1:c.1949G>T | ENSP00000512297.1:p.Gly650Val | |
| ENST00000695971.1:c.1928G>T | ENSP00000512298.1:p.Gly643Val | |
| ENST00000695972.1:c.1949G>T | ENSP00000512299.1:p.Gly650Val | |
| ENST00000695973.1:c.*313G>T | ENSP00000512300.1:n.*313G>T | |
| ENST00000695974.1:c.1772G>T | ENSP00000512301.1:p.Gly591Val | |
| ENST00000695975.1:c.*76G>T | ENSP00000512302.1:n.*76G>T | |
| ENST00000695976.1:c.1760G>T | ENSP00000512303.1:p.Gly587Val | |
| ENST00000695981.1:c.1949G>T | ENSP00000512306.1:p.Gly650Val | |
| ENST00000695983.1:c.1949G>T | ENSP00000512308.1:p.Gly650Val | |
| ENST00000695984.1:c.245-1801G>T | ENSP00000512309.1:n.245-1801G>T | |
| ENST00000695986.1:c.*1600G>T | ENSP00000512311.1:n.*1600G>T | |
| ENST00000696025.1:n.2033G>T | ||
| ENST00000696026.1:c.*231G>T | ENSP00000512335.1:n.*231G>T | |
| ENST00000696027.1:c.1949G>T | ENSP00000512336.1:p.Gly650Val | |
| ENST00000696028.1:c.1949G>T | ENSP00000512337.1:p.Gly650Val | |
| ENST00000696029.1:c.1949G>T | ENSP00000512338.1:p.Gly650Val | |
| ENST00000696031.1:c.*1467G>T | ENSP00000512340.1:n.*1467G>T | |
| ENST00000696032.1:c.1949G>T | ENSP00000512341.1:p.Gly650Val | |
| ENST00000696033.1:c.1159+36931G>T | ENSP00000512342.1:n.1159+36931G>T | |
| ENST00000367429.9:c.1949G>T MANE Select | ENSP00000356399.4:p.Gly650Val | |
| ENST00000367429.8:c.1949G>T | ENSP00000356399.4:p.Gly650Val | |
| ENST00000466229.5:n.3965G>T | ||
| NM_000186.3:c.1949G>T , LRG_47t1:c.1949G>T | NP_000177.2:p.Gly650Val | |
| XR_001737134.2:n.2135G>T | ||
| NM_000186.4:c.1949G>T MANE Select | NP_000177.2:p.Gly650Val |