Linked Data
dbSNP Id:
rs1482016074
gnomAD v2:
4-46823522-G-C
gnomAD v3:
4-46821505-G-C
gnomAD v4:
4-46821505-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46821505G>C , CM000666.2:g.46821505G>C | GRCh38 |
| NC_000004.11:g.46823522G>C , CM000666.1:g.46823522G>C | GRCh37 |
| NC_000004.10:g.46518279G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355591.8:c.-50+23455C>G MANE Select | ENSP00000347799.3:n.-50+23455C>G | |
| ENST00000355591.7:c.-50+23455C>G | ENSP00000347799.3:n.-50+23455C>G | |
| ENST00000396533.5:c.-50+23455C>G | ENSP00000379784.1:n.-50+23455C>G | |
| ENST00000505102.1:c.-50+23455C>G | ENSP00000423519.1:n.-50+23455C>G | |
| ENST00000543208.5:c.-53+23455C>G | ENSP00000437439.1:n.-53+23455C>G | |
| NM_130902.2:c.-50+23455C>G | NP_570972.2:n.-50+23455C>G | |
| XM_011513630.1:c.-50+23455C>G | XP_011511932.1:n.-50+23455C>G | |
| XM_011513631.1:c.-50+23455C>G | XP_011511933.1:n.-50+23455C>G | |
| XM_011513632.1:c.-50+23455C>G | XP_011511934.1:n.-50+23455C>G | |
| XM_011513633.1:c.-50+23455C>G | XP_011511935.1:n.-50+23455C>G | |
| XM_011513634.1:c.-50+23455C>G | XP_011511936.1:n.-50+23455C>G | |
| XM_011513635.1:c.-50+23455C>G | XP_011511937.1:n.-50+23455C>G | |
| XM_011513637.1:c.-50+23455C>G | XP_011511939.1:n.-50+23455C>G | |
| XM_011513638.1:c.-50+23455C>G | XP_011511940.1:n.-50+23455C>G | |
| XM_011513630.2:c.-50+23455C>G | XP_011511932.1:n.-50+23455C>G | |
| XM_011513631.2:c.-50+23455C>G | XP_011511933.1:n.-50+23455C>G | |
| XM_011513632.2:c.-50+23455C>G | XP_011511934.1:n.-50+23455C>G | |
| XM_011513633.2:c.-50+23455C>G | XP_011511935.1:n.-50+23455C>G | |
| XM_011513634.2:c.-50+23455C>G | XP_011511936.1:n.-50+23455C>G | |
| XM_011513635.2:c.-50+23455C>G | XP_011511937.1:n.-50+23455C>G | |
| XM_011513637.2:c.-50+23455C>G | XP_011511939.1:n.-50+23455C>G | |
| XM_011513638.2:c.-50+23455C>G | XP_011511940.1:n.-50+23455C>G | |
| NM_130902.3:c.-50+23455C>G MANE Select | NP_570972.2:n.-50+23455C>G |