Linked Data
ClinVar Variation Id:
294508
dbSNP Id:
rs755926856
ExAC:
1:196709750 C / A
gnomAD v3:
1-196740620-C-A
gnomAD v4:
1-196740620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196740620C>A , CM000663.2:g.196740620C>A | GRCh38 |
| NC_000001.10:g.196709750C>A , CM000663.1:g.196709750C>A | GRCh37 |
| NC_000001.9:g.194976373C>A | NCBI36 |
| NG_007259.1:g.93610C>A , LRG_47:g.93610C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.3050C>A | ||
| ENST00000695970.1:c.2783-1255C>A | ENSP00000512297.1:n.2783-1255C>A | |
| ENST00000695971.1:c.2763C>A | ENSP00000512298.1:p.Gly921= | |
| ENST00000695972.1:c.2233-44C>A | ENSP00000512299.1:n.2233-44C>A | |
| ENST00000695973.1:c.*1148C>A | ENSP00000512300.1:n.*1148C>A | |
| ENST00000695974.1:c.2607C>A | ENSP00000512301.1:p.Gly869= | |
| ENST00000695975.1:c.*911C>A | ENSP00000512302.1:n.*911C>A | |
| ENST00000695976.1:c.2595C>A | ENSP00000512303.1:p.Gly865= | |
| ENST00000695981.1:c.2784C>A | ENSP00000512306.1:p.Gly928= | |
| ENST00000695983.1:c.2784C>A | ENSP00000512308.1:p.Gly928= | |
| ENST00000695984.1:c.792C>A | ENSP00000512309.1:p.Gly264= | |
| ENST00000695986.1:c.*2435C>A | ENSP00000512311.1:n.*2435C>A | |
| ENST00000696025.1:n.2868C>A | ||
| ENST00000696026.1:c.*1066C>A | ENSP00000512335.1:n.*1066C>A | |
| ENST00000696027.1:c.2778C>A | ENSP00000512336.1:p.Gly926= | |
| ENST00000696028.1:c.2784C>A | ENSP00000512337.1:p.Gly928= | |
| ENST00000696029.1:c.2784C>A | ENSP00000512338.1:p.Gly928= | |
| ENST00000696031.1:c.*2302C>A | ENSP00000512340.1:n.*2302C>A | |
| ENST00000696032.1:c.2784C>A | ENSP00000512341.1:p.Gly928= | |
| ENST00000696033.1:c.1160-39177C>A | ENSP00000512342.1:n.1160-39177C>A | |
| ENST00000367429.9:c.2784C>A MANE Select | ENSP00000356399.4:p.Gly928= | |
| ENST00000367429.8:c.2784C>A | ENSP00000356399.4:p.Gly928= | |
| ENST00000466229.5:n.4800C>A | ||
| ENST00000470918.1:n.287C>A | ||
| NM_000186.3:c.2784C>A , LRG_47t1:c.2784C>A | NP_000177.2:p.Gly928= | |
| XR_001737134.2:n.2970C>A | ||
| NM_000186.4:c.2784C>A MANE Select | NP_000177.2:p.Gly928= |