Linked Data
dbSNP Id:
rs11700100
gnomAD v2:
20-56080049-T-C
gnomAD v3:
20-57504993-T-C
gnomAD v4:
20-57504993-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57504993T>C , CM000682.2:g.57504993T>C | GRCh38 |
| NC_000020.10:g.56080049T>C , CM000682.1:g.56080049T>C | GRCh37 |
| NC_000020.9:g.55513455T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243914.8:c.1675-1392A>G MANE Select | ENSP00000243914.3:n.1675-1392A>G | |
| ENST00000243914.7:c.1675-1392A>G | ENSP00000243914.3:n.1675-1392A>G | |
| ENST00000371196.6:c.1675-1392A>G | ENSP00000360239.2:n.1675-1392A>G | |
| ENST00000422109.6:c.1280-1392A>G | ENSP00000413713.2:n.1280-1392A>G | |
| ENST00000423479.7:c.1675-1392A>G | ENSP00000415579.2:n.1675-1392A>G | |
| ENST00000426658.6:c.*956-1392A>G | ENSP00000403369.2:n.*956-1392A>G | |
| ENST00000429804.7:c.1525-1392A>G | ENSP00000415329.2:n.1525-1392A>G | |
| ENST00000433949.7:c.1060-1392A>G | ENSP00000392034.3:n.1060-1392A>G | |
| ENST00000502686.6:c.889-1392A>G | ENSP00000437999.1:n.889-1392A>G | |
| ENST00000608263.5:c.1675-1392A>G | ENSP00000476783.1:n.1675-1392A>G | |
| ENST00000608440.5:c.1675-1392A>G | ENSP00000477488.1:n.1675-1392A>G | |
| ENST00000609232.5:c.1675-1392A>G | ENSP00000476398.1:n.1675-1392A>G | |
| NM_001269040.1:c.1675-1392A>G | NP_001255969.1:n.1675-1392A>G | |
| NM_001269041.1:c.1675-1392A>G | NP_001255970.1:n.1675-1392A>G | |
| NM_001269042.1:c.1675-1392A>G | NP_001255971.1:n.1675-1392A>G | |
| NM_001269043.1:c.1675-1392A>G | NP_001255972.1:n.1675-1392A>G | |
| NM_001269044.1:c.1675-1392A>G | NP_001255973.1:n.1675-1392A>G | |
| NM_001269046.1:c.1525-1392A>G | NP_001255975.1:n.1525-1392A>G | |
| NM_001269049.1:c.1060-1392A>G | NP_001255978.1:n.1060-1392A>G | |
| NM_001269054.1:c.889-1392A>G | NP_001255983.1:n.889-1392A>G | |
| NM_080618.3:c.1675-1392A>G | NP_542185.2:n.1675-1392A>G | |
| NR_072975.1:n.2974-1392A>G | ||
| NM_001269040.2:c.1675-1392A>G | NP_001255969.1:n.1675-1392A>G | |
| NM_001269041.2:c.1675-1392A>G | NP_001255970.1:n.1675-1392A>G | |
| NM_001269042.2:c.1675-1392A>G | NP_001255971.1:n.1675-1392A>G | |
| NM_001269043.2:c.1675-1392A>G | NP_001255972.1:n.1675-1392A>G | |
| NM_001269044.3:c.1675-1392A>G | NP_001255973.1:n.1675-1392A>G | |
| NM_001269046.2:c.1525-1392A>G | NP_001255975.1:n.1525-1392A>G | |
| NM_001269049.2:c.1060-1392A>G | NP_001255978.1:n.1060-1392A>G | |
| NM_001269054.2:c.889-1392A>G | NP_001255983.1:n.889-1392A>G | |
| NM_001386993.1:c.1675-1392A>G MANE Select | NP_001373922.1:n.1675-1392A>G | |
| NM_001386994.1:c.1675-1392A>G | NP_001373923.1:n.1675-1392A>G | |
| NM_001386995.1:c.1675-1392A>G | NP_001373924.1:n.1675-1392A>G | |
| NM_001386997.1:c.1525-1392A>G | NP_001373926.1:n.1525-1392A>G | |
| NM_080618.4:c.1675-1392A>G | NP_542185.2:n.1675-1392A>G | |
| NR_072975.3:n.2804-1392A>G | ||
| NR_170377.1:n.1772-1392A>G |