Linked Data
ClinVar Variation Id:
158068
dbSNP Id:
rs138290714
ExAC:
X:41402068 T / C
gnomAD v2:
X-41402068-T-C
gnomAD v3:
X-41542815-T-C
gnomAD v4:
X-41542815-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41542815T>C , CM000685.2:g.41542815T>C | GRCh38 |
| NC_000023.10:g.41402068T>C , CM000685.1:g.41402068T>C | GRCh37 |
| NC_000023.9:g.41287012T>C | NCBI36 |
| NG_016754.1:g.385220A>G | |
| NG_016754.2:g.385220A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.2004-9A>G | ENSP00000367396.2:n.2004-9A>G | |
| ENST00000378158.6:c.1986-9A>G | ENSP00000367400.2:n.1986-9A>G | |
| ENST00000378163.7:c.2040-9A>G MANE Select | ENSP00000367405.1:n.2040-9A>G | |
| ENST00000378166.9:c.1953-9A>G | ENSP00000367408.5:n.1953-9A>G | |
| ENST00000378168.8:c.2058-9A>G | ENSP00000367410.4:n.2058-9A>G | |
| ENST00000378179.9:c.660-9A>G | ENSP00000367421.4:n.660-9A>G | |
| ENST00000421587.8:c.1971-9A>G | ENSP00000400526.4:n.1971-9A>G | |
| ENST00000442742.7:c.1917-9A>G | ENSP00000398007.3:n.1917-9A>G | |
| ENST00000642499.1:n.834-9A>G | ||
| ENST00000644219.1:c.2022-9A>G | ENSP00000495357.1:n.2022-9A>G | |
| ENST00000644347.1:c.1953-9A>G | ENSP00000494183.1:n.1953-9A>G | |
| ENST00000645566.1:c.2040-9A>G | ENSP00000494788.1:n.2040-9A>G | |
| ENST00000645937.2:n.2271-9A>G | ||
| ENST00000645986.2:c.2022-9A>G | ENSP00000494409.2:n.2022-9A>G | |
| ENST00000646087.2:c.1362-9A>G | ENSP00000495510.2:n.1362-9A>G | |
| ENST00000646120.2:c.1971-9A>G | ENSP00000495291.2:n.1971-9A>G | |
| ENST00000675354.1:c.1989-9A>G | ENSP00000502315.1:n.1989-9A>G | |
| ENST00000378158.5:c.2004-9A>G | ENSP00000367400.1:n.2004-9A>G | |
| ENST00000378163.5:c.2040-9A>G | ENSP00000367405.1:n.2040-9A>G | |
| ENST00000378166.8:c.2040-9A>G | ENSP00000367408.4:n.2040-9A>G | |
| ENST00000378168.6:c.405-9A>G | ENSP00000367410.2:n.405-9A>G | |
| ENST00000378179.7:c.816-9A>G | ENSP00000367421.3:n.816-9A>G | |
| ENST00000421587.6:c.1953-9A>G | ENSP00000400526.2:n.1953-9A>G | |
| ENST00000442742.6:c.1971-9A>G | ENSP00000398007.2:n.1971-9A>G | |
| NM_001126054.2:c.1971-9A>G | NP_001119526.1:n.1971-9A>G | |
| NM_001126055.2:c.1953-9A>G | NP_001119527.1:n.1953-9A>G | |
| NM_003688.3:c.2040-9A>G | NP_003679.2:n.2040-9A>G | |
| XM_005272686.3:c.2022-9A>G | XP_005272743.1:n.2022-9A>G | |
| XM_006724566.2:c.1917-9A>G | XP_006724629.1:n.1917-9A>G | |
| XM_011543993.1:c.2040-9A>G | XP_011542295.1:n.2040-9A>G | |
| XM_011543994.1:c.2004-9A>G | XP_011542296.1:n.2004-9A>G | |
| XM_011543995.1:c.1971-9A>G | XP_011542297.1:n.1971-9A>G | |
| XM_011543996.1:c.1935-9A>G | XP_011542298.1:n.1935-9A>G | |
| XM_011543997.1:c.1467-9A>G | XP_011542299.1:n.1467-9A>G | |
| XM_005272686.4:c.2022-9A>G | XP_005272743.1:n.2022-9A>G | |
| XM_006724566.3:c.1917-9A>G | XP_006724629.1:n.1917-9A>G | |
| XM_011543993.2:c.2040-9A>G | XP_011542295.1:n.2040-9A>G | |
| XM_011543994.2:c.2004-9A>G | XP_011542296.1:n.2004-9A>G | |
| XM_011543995.2:c.1971-9A>G | XP_011542297.1:n.1971-9A>G | |
| XM_011543996.2:c.1935-9A>G | XP_011542298.1:n.1935-9A>G | |
| XM_011543997.3:c.1467-9A>G | XP_011542299.1:n.1467-9A>G | |
| XM_024452473.1:c.1362-9A>G | XP_024308241.1:n.1362-9A>G | |
| NM_001367721.1:c.2040-9A>G MANE Select | NP_001354650.1:n.2040-9A>G |