Linked Data
ClinVar Variation Id:
1927291
ClinVar RCV Id:
RCV002631096
dbSNP Id:
rs377008918
ExAC:
1:196683039 C / G
gnomAD v2:
1-196683039-C-G
gnomAD v4:
1-196713909-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196713909C>G , CM000663.2:g.196713909C>G | GRCh38 |
| NC_000001.10:g.196683039C>G , CM000663.1:g.196683039C>G | GRCh37 |
| NC_000001.9:g.194949662C>G | NCBI36 |
| NG_007259.1:g.66899C>G , LRG_47:g.66899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.1777C>G | ||
| ENST00000695969.1:c.1511C>G | ENSP00000512296.1:p.Thr504Arg | |
| ENST00000695970.1:c.1511C>G | ENSP00000512297.1:p.Thr504Arg | |
| ENST00000695971.1:c.1490C>G | ENSP00000512298.1:p.Thr497Arg | |
| ENST00000695972.1:c.1511C>G | ENSP00000512299.1:p.Thr504Arg | |
| ENST00000695973.1:c.1511C>G | ENSP00000512300.1:p.Thr504Arg | |
| ENST00000695974.1:c.1511C>G | ENSP00000512301.1:p.Thr504Arg | |
| ENST00000695975.1:c.1511C>G | ENSP00000512302.1:p.Thr504Arg | |
| ENST00000695976.1:c.1322C>G | ENSP00000512303.1:p.Thr441Arg | |
| ENST00000695981.1:c.1511C>G | ENSP00000512306.1:p.Thr504Arg | |
| ENST00000695983.1:c.1511C>G | ENSP00000512308.1:p.Thr504Arg | |
| ENST00000695984.1:c.245-14437C>G | ENSP00000512309.1:n.245-14437C>G | |
| ENST00000695986.1:c.*1162C>G | ENSP00000512311.1:n.*1162C>G | |
| ENST00000696024.1:n.1595C>G | ||
| ENST00000696025.1:n.1595C>G | ||
| ENST00000696026.1:c.1511C>G | ENSP00000512335.1:p.Thr504Arg | |
| ENST00000696027.1:c.1511C>G | ENSP00000512336.1:p.Thr504Arg | |
| ENST00000696028.1:c.1511C>G | ENSP00000512337.1:p.Thr504Arg | |
| ENST00000696029.1:c.1511C>G | ENSP00000512338.1:p.Thr504Arg | |
| ENST00000696031.1:c.*1029C>G | ENSP00000512340.1:n.*1029C>G | |
| ENST00000696032.1:c.1511C>G | ENSP00000512341.1:p.Thr504Arg | |
| ENST00000696033.1:c.1159+24295C>G | ENSP00000512342.1:n.1159+24295C>G | |
| ENST00000367429.9:c.1511C>G MANE Select | ENSP00000356399.4:p.Thr504Arg | |
| ENST00000367429.8:c.1511C>G | ENSP00000356399.4:p.Thr504Arg | |
| ENST00000466229.5:n.3527C>G | ||
| NM_000186.3:c.1511C>G , LRG_47t1:c.1511C>G | NP_000177.2:p.Thr504Arg | |
| XR_001737134.2:n.1596C>G | ||
| NM_000186.4:c.1511C>G MANE Select | NP_000177.2:p.Thr504Arg |