Linked Data
ClinVar Variation Id:
93498
dbSNP Id:
rs371772243
ExAC:
X:153760318 G / C
gnomAD v2:
X-153760318-G-C
gnomAD v3:
X-154532103-G-C
gnomAD v4:
X-154532103-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532103G>C , CM000685.2:g.154532103G>C | GRCh38 |
| NC_000023.10:g.153760318G>C , CM000685.1:g.153760318G>C | GRCh37 |
| NC_000023.9:g.153413512G>C | NCBI36 |
| NG_009015.2:g.20470C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1458-13C>G | ENSP00000377194.2:n.1458-13C>G | |
| ENST00000439227.6:c.1461-13C>G | ENSP00000395599.2:n.1461-13C>G | |
| ENST00000696420.1:c.1457+85C>G | ENSP00000512615.1:n.1457+85C>G | |
| ENST00000696421.1:c.1457+85C>G | ENSP00000512616.1:n.1457+85C>G | |
| ENST00000696422.1:c.1321-13C>G | ||
| ENST00000696423.1:c.1324-13C>G | ||
| ENST00000696424.1:c.1310-13C>G | ENSP00000512619.1:n.1310-13C>G | |
| ENST00000696425.1:c.*371-13C>G | ENSP00000512620.1:n.*371-13C>G | |
| ENST00000696426.1:c.*918-13C>G | ENSP00000512621.1:n.*918-13C>G | |
| ENST00000696427.1:c.*418-13C>G | ENSP00000512622.1:n.*418-13C>G | |
| ENST00000696428.1:c.*1300-13C>G | ENSP00000512623.1:n.*1300-13C>G | |
| ENST00000696429.1:c.1458-13C>G | ENSP00000512624.1:n.1458-13C>G | |
| ENST00000696430.1:c.1458-13C>G | ENSP00000512625.1:n.1458-13C>G | |
| ENST00000393562.10:c.1458-13C>G MANE Select | ENSP00000377192.3:n.1458-13C>G | |
| ENST00000369620.6:c.1596-13C>G | ENSP00000358633.2:n.1596-13C>G | |
| ENST00000393562.6:c.1548-13C>G | ENSP00000377192.2:n.1548-13C>G | |
| ENST00000393564.6:c.1458-13C>G | ENSP00000377194.2:n.1458-13C>G | |
| ENST00000490651.1:n.763C>G | ||
| ENST00000621232.4:c.1458-13C>G | ENSP00000483686.1:n.1458-13C>G | |
| NM_000402.4:c.1548-13C>G | NP_000393.4:n.1548-13C>G | |
| NM_001042351.2:c.1458-13C>G | NP_001035810.1:n.1458-13C>G | |
| XM_005274657.2:c.1551-13C>G | XP_005274714.1:n.1551-13C>G | |
| XM_005274658.2:c.1461-13C>G | XP_005274715.1:n.1461-13C>G | |
| NM_001360016.2:c.1458-13C>G MANE Select | NP_001346945.1:n.1458-13C>G | |
| NM_001042351.3:c.1458-13C>G | NP_001035810.1:n.1458-13C>G |