Linked Data
dbSNP Id:
rs393955
gnomAD v2:
1-196692470-C-A
gnomAD v3:
1-196723340-C-A
gnomAD v4:
1-196723340-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196723340C>A , CM000663.2:g.196723340C>A | GRCh38 |
| NC_000001.10:g.196692470C>A , CM000663.1:g.196692470C>A | GRCh37 |
| NC_000001.9:g.194959093C>A | NCBI36 |
| NG_007259.1:g.76330C>A , LRG_47:g.76330C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.1963-1781C>A | ||
| ENST00000695969.1:c.1697-1781C>A | ENSP00000512296.1:n.1697-1781C>A | |
| ENST00000695970.1:c.1697-1781C>A | ENSP00000512297.1:n.1697-1781C>A | |
| ENST00000695971.1:c.1676-1781C>A | ENSP00000512298.1:n.1676-1781C>A | |
| ENST00000695972.1:c.1697-1781C>A | ENSP00000512299.1:n.1697-1781C>A | |
| ENST00000695973.1:c.*61-1781C>A | ENSP00000512300.1:n.*61-1781C>A | |
| ENST00000695974.1:c.1697-3130C>A | ENSP00000512301.1:n.1697-3130C>A | |
| ENST00000695975.1:c.1697-1781C>A | ENSP00000512302.1:n.1697-1781C>A | |
| ENST00000695976.1:c.1508-1781C>A | ENSP00000512303.1:n.1508-1781C>A | |
| ENST00000695981.1:c.1697-1781C>A | ENSP00000512306.1:n.1697-1781C>A | |
| ENST00000695983.1:c.1697-1781C>A | ENSP00000512308.1:n.1697-1781C>A | |
| ENST00000695984.1:c.245-5006C>A | ENSP00000512309.1:n.245-5006C>A | |
| ENST00000695986.1:c.*1348-1781C>A | ENSP00000512311.1:n.*1348-1781C>A | |
| ENST00000696025.1:n.1781-1781C>A | ||
| ENST00000696026.1:c.1701-1787C>A | ENSP00000512335.1:n.1701-1787C>A | |
| ENST00000696027.1:c.1697-1781C>A | ENSP00000512336.1:n.1697-1781C>A | |
| ENST00000696028.1:c.1697-1781C>A | ENSP00000512337.1:n.1697-1781C>A | |
| ENST00000696029.1:c.1697-1781C>A | ENSP00000512338.1:n.1697-1781C>A | |
| ENST00000696031.1:c.*1215-1781C>A | ENSP00000512340.1:n.*1215-1781C>A | |
| ENST00000696032.1:c.1697-1781C>A | ENSP00000512341.1:n.1697-1781C>A | |
| ENST00000696033.1:c.1159+33726C>A | ENSP00000512342.1:n.1159+33726C>A | |
| ENST00000367429.9:c.1697-1781C>A MANE Select | ENSP00000356399.4:n.1697-1781C>A | |
| ENST00000367429.8:c.1697-1781C>A | ENSP00000356399.4:n.1697-1781C>A | |
| ENST00000466229.5:n.3713-1781C>A | ||
| NM_000186.3:c.1697-1781C>A , LRG_47t1:c.1697-1781C>A | NP_000177.2:n.1697-1781C>A | |
| XR_001737134.2:n.1883-1781C>A | ||
| NM_000186.4:c.1697-1781C>A MANE Select | NP_000177.2:n.1697-1781C>A |