Linked Data
dbSNP Id:
rs11726563
gnomAD v2:
4-46823634-A-C
gnomAD v3:
4-46821617-A-C
gnomAD v4:
4-46821617-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46821617A>C , CM000666.2:g.46821617A>C | GRCh38 |
| NC_000004.11:g.46823634A>C , CM000666.1:g.46823634A>C | GRCh37 |
| NC_000004.10:g.46518391A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355591.8:c.-50+23343T>G MANE Select | ENSP00000347799.3:n.-50+23343T>G | |
| ENST00000355591.7:c.-50+23343T>G | ENSP00000347799.3:n.-50+23343T>G | |
| ENST00000396533.5:c.-50+23343T>G | ENSP00000379784.1:n.-50+23343T>G | |
| ENST00000505102.1:c.-50+23343T>G | ENSP00000423519.1:n.-50+23343T>G | |
| ENST00000543208.5:c.-53+23343T>G | ENSP00000437439.1:n.-53+23343T>G | |
| NM_130902.2:c.-50+23343T>G | NP_570972.2:n.-50+23343T>G | |
| XM_011513630.1:c.-50+23343T>G | XP_011511932.1:n.-50+23343T>G | |
| XM_011513631.1:c.-50+23343T>G | XP_011511933.1:n.-50+23343T>G | |
| XM_011513632.1:c.-50+23343T>G | XP_011511934.1:n.-50+23343T>G | |
| XM_011513633.1:c.-50+23343T>G | XP_011511935.1:n.-50+23343T>G | |
| XM_011513634.1:c.-50+23343T>G | XP_011511936.1:n.-50+23343T>G | |
| XM_011513635.1:c.-50+23343T>G | XP_011511937.1:n.-50+23343T>G | |
| XM_011513637.1:c.-50+23343T>G | XP_011511939.1:n.-50+23343T>G | |
| XM_011513638.1:c.-50+23343T>G | XP_011511940.1:n.-50+23343T>G | |
| XM_011513630.2:c.-50+23343T>G | XP_011511932.1:n.-50+23343T>G | |
| XM_011513631.2:c.-50+23343T>G | XP_011511933.1:n.-50+23343T>G | |
| XM_011513632.2:c.-50+23343T>G | XP_011511934.1:n.-50+23343T>G | |
| XM_011513633.2:c.-50+23343T>G | XP_011511935.1:n.-50+23343T>G | |
| XM_011513634.2:c.-50+23343T>G | XP_011511936.1:n.-50+23343T>G | |
| XM_011513635.2:c.-50+23343T>G | XP_011511937.1:n.-50+23343T>G | |
| XM_011513637.2:c.-50+23343T>G | XP_011511939.1:n.-50+23343T>G | |
| XM_011513638.2:c.-50+23343T>G | XP_011511940.1:n.-50+23343T>G | |
| NM_130902.3:c.-50+23343T>G MANE Select | NP_570972.2:n.-50+23343T>G |