Linked Data
dbSNP Id:
rs1667976260
gnomAD v4:
1-196690190-T-C
MyVariant Identifiers:
chr1:g.196659320T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196690190T>C , CM000663.2:g.196690190T>C | GRCh38 |
| NC_000001.10:g.196659320T>C , CM000663.1:g.196659320T>C | GRCh37 |
| NC_000001.9:g.194925943T>C | NCBI36 |
| NG_007259.1:g.43180T>C , LRG_47:g.43180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359637.3:c.1095T>C | ENSP00000352658.2:p.Val365= | |
| ENST00000470918.2:n.1553T>C | ||
| ENST00000695968.1:c.1104T>C | ENSP00000512295.1:p.Val368= | |
| ENST00000695969.1:c.1287T>C | ENSP00000512296.1:p.Val429= | |
| ENST00000695970.1:c.1287T>C | ENSP00000512297.1:p.Val429= | |
| ENST00000695971.1:c.1266T>C | ENSP00000512298.1:p.Val422= | |
| ENST00000695972.1:c.1287T>C | ENSP00000512299.1:p.Val429= | |
| ENST00000695973.1:c.1287T>C | ENSP00000512300.1:p.Val429= | |
| ENST00000695974.1:c.1287T>C | ENSP00000512301.1:p.Val429= | |
| ENST00000695975.1:c.1287T>C | ENSP00000512302.1:p.Val429= | |
| ENST00000695976.1:c.1098T>C | ENSP00000512303.1:p.Val366= | |
| ENST00000695977.1:n.128T>C | ||
| ENST00000695978.1:c.1287T>C | ENSP00000512304.1:p.Val429= | |
| ENST00000695979.1:c.1266T>C | ENSP00000512305.1:p.Val422= | |
| ENST00000695980.1:n.1407T>C | ||
| ENST00000695981.1:c.1287T>C | ENSP00000512306.1:p.Val429= | |
| ENST00000695983.1:c.1287T>C | ENSP00000512308.1:p.Val429= | |
| ENST00000695984.1:c.244+17027T>C | ENSP00000512309.1:n.244+17027T>C | |
| ENST00000695986.1:c.*938T>C | ENSP00000512311.1:n.*938T>C | |
| ENST00000695987.1:c.1098T>C | ENSP00000512312.1:p.Val366= | |
| ENST00000696018.1:n.1371T>C | ||
| ENST00000696019.1:n.1371T>C | ||
| ENST00000696020.1:n.1371T>C | ||
| ENST00000696021.1:n.1350T>C | ||
| ENST00000696022.1:n.1371T>C | ||
| ENST00000696023.1:c.1287T>C | ENSP00000512334.1:p.Val429= | |
| ENST00000696024.1:n.1371T>C | ||
| ENST00000696025.1:n.1371T>C | ||
| ENST00000696026.1:c.1287T>C | ENSP00000512335.1:p.Val429= | |
| ENST00000696027.1:c.1287T>C | ENSP00000512336.1:p.Val429= | |
| ENST00000696028.1:c.1287T>C | ENSP00000512337.1:p.Val429= | |
| ENST00000696029.1:c.1287T>C | ENSP00000512338.1:p.Val429= | |
| ENST00000696030.1:c.1212T>C | ENSP00000512339.1:p.Val404= | |
| ENST00000696031.1:c.*805T>C | ENSP00000512340.1:n.*805T>C | |
| ENST00000696032.1:c.1287T>C | ENSP00000512341.1:p.Val429= | |
| ENST00000696033.1:c.1159+576T>C | ENSP00000512342.1:n.1159+576T>C | |
| ENST00000367429.9:c.1287T>C MANE Select | ENSP00000356399.4:p.Val429= | |
| ENST00000359637.2:c.1095T>C | ENSP00000352658.2:p.Val365= | |
| ENST00000367429.8:c.1287T>C | ENSP00000356399.4:p.Val429= | |
| ENST00000466229.5:n.3303T>C | ||
| ENST00000630130.2:c.1287T>C | ENSP00000487250.1:p.Val429= | |
| NM_000186.3:c.1287T>C , LRG_47t1:c.1287T>C | NP_000177.2:p.Val429= | |
| NM_001014975.2:c.1287T>C | NP_001014975.1:p.Val429= | |
| XM_017001108.2:c.1287T>C | XP_016856597.1:p.Val429= | |
| XR_001737134.2:n.1372T>C | ||
| NM_000186.4:c.1287T>C MANE Select | NP_000177.2:p.Val429= | |
| NM_001014975.3:c.1287T>C | NP_001014975.1:p.Val429= |