Linked Data
dbSNP Id:
rs375116135
ExAC:
X:41782273 G / C
gnomAD v2:
X-41782273-G-C
gnomAD v3:
X-41923020-G-C
gnomAD v4:
X-41923020-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41923020G>C , CM000685.2:g.41923020G>C | GRCh38 |
| NC_000023.10:g.41782273G>C , CM000685.1:g.41782273G>C | GRCh37 |
| NC_000023.9:g.41667217G>C | NCBI36 |
| NG_016754.1:g.5015C>G | |
| NG_016754.2:g.5015C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.-32C>G | ENSP00000367396.2:n.-32C>G | |
| ENST00000378158.6:c.-32C>G | ENSP00000367400.2:n.-32C>G | |
| ENST00000378163.7:c.-32C>G MANE Select | ENSP00000367405.1:n.-32C>G | |
| ENST00000378166.9:c.-32C>G | ENSP00000367408.5:n.-32C>G | |
| ENST00000378168.8:c.-32C>G | ENSP00000367410.4:n.-32C>G | |
| ENST00000442742.7:c.-32C>G | ENSP00000398007.3:n.-32C>G | |
| ENST00000643831.2:c.-32C>G | ENSP00000494388.2:n.-32C>G | |
| ENST00000644219.1:c.-32C>G | ENSP00000495357.1:n.-32C>G | |
| ENST00000644347.1:c.-32C>G | ENSP00000494183.1:n.-32C>G | |
| ENST00000645986.2:c.-32C>G | ENSP00000494409.2:n.-32C>G | |
| ENST00000675354.1:c.-32C>G | ENSP00000502315.1:n.-32C>G | |
| ENST00000378154.1:c.-32C>G | ENSP00000367396.1:n.-32C>G | |
| ENST00000378158.5:c.-32C>G | ENSP00000367400.1:n.-32C>G | |
| ENST00000378163.5:c.-32C>G | ENSP00000367405.1:n.-32C>G | |
| NM_001126054.2:c.-32C>G | NP_001119526.1:n.-32C>G | |
| NM_001126055.2:c.-32C>G | NP_001119527.1:n.-32C>G | |
| NM_003688.3:c.-32C>G | NP_003679.2:n.-32C>G | |
| XM_005272686.3:c.-32C>G | XP_005272743.1:n.-32C>G | |
| XM_006724566.2:c.-32C>G | XP_006724629.1:n.-32C>G | |
| XM_011543993.1:c.-32C>G | XP_011542295.1:n.-32C>G | |
| XM_011543994.1:c.-32C>G | XP_011542296.1:n.-32C>G | |
| XM_011543995.1:c.-32C>G | XP_011542297.1:n.-32C>G | |
| XM_011543996.1:c.-32C>G | XP_011542298.1:n.-32C>G | |
| XM_005272686.4:c.-32C>G | XP_005272743.1:n.-32C>G | |
| XM_006724566.3:c.-32C>G | XP_006724629.1:n.-32C>G | |
| XM_011543993.2:c.-32C>G | XP_011542295.1:n.-32C>G | |
| XM_011543994.2:c.-32C>G | XP_011542296.1:n.-32C>G | |
| XM_011543995.2:c.-32C>G | XP_011542297.1:n.-32C>G | |
| XM_011543996.2:c.-32C>G | XP_011542298.1:n.-32C>G | |
| NM_001367721.1:c.-32C>G MANE Select | NP_001354650.1:n.-32C>G |