MyVariant.info:
GRCh38
chrX:g.154532439A>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91890138 (EAS)
Genomes Max Group AF
0.87736364 (NFE)
Exomes Max Group AF
0.92346736 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532439A>G , CM000685.2:g.154532439A>G | GRCh38 |
| NG_009015.2:g.20134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1311T>C | ENSP00000377194.2:p.Tyr437= | |
| ENST00000439227.6:c.1314T>C | ENSP00000395599.2:p.Tyr438= | |
| ENST00000696420.1:c.1311T>C | ENSP00000512615.1:p.Tyr437= | |
| ENST00000696421.1:c.1311T>C | ENSP00000512616.1:p.Tyr437= | |
| ENST00000696422.1:c.1174T>C | ||
| ENST00000696423.1:c.1177T>C | ||
| ENST00000696424.1:c.1163T>C | ENSP00000512619.1:n.1163T>C | |
| ENST00000696425.1:c.*224T>C | ENSP00000512620.1:n.*224T>C | |
| ENST00000696426.1:c.*771T>C | ENSP00000512621.1:n.*771T>C | |
| ENST00000696427.1:c.*271T>C | ENSP00000512622.1:n.*271T>C | |
| ENST00000696428.1:c.*1153T>C | ENSP00000512623.1:n.*1153T>C | |
| ENST00000696429.1:c.1311T>C | ENSP00000512624.1:p.Tyr437= | |
| ENST00000696430.1:c.1311T>C | ENSP00000512625.1:p.Tyr437= | |
| ENST00000393562.10:c.1311T>C MANE Select | ENSP00000377192.3:p.Tyr437= | |
| ENST00000369620.6:c.1449T>C | ENSP00000358633.2:p.Tyr483= | |
| ENST00000393562.6:c.1401T>C | ENSP00000377192.2:p.Tyr467= | |
| ENST00000393564.6:c.1311T>C | ENSP00000377194.2:p.Tyr437= | |
| ENST00000490651.1:n.532T>C | ||
| ENST00000621232.4:c.1311T>C | ENSP00000483686.1:p.Tyr437= | |
| NM_000402.4:c.1401T>C | NP_000393.4:p.Tyr467= | |
| NM_001042351.2:c.1311T>C | NP_001035810.1:p.Tyr437= | |
| XM_005274657.2:c.1404T>C | XP_005274714.1:p.Tyr468= | |
| XM_005274658.2:c.1314T>C | XP_005274715.1:p.Tyr438= | |
| NM_001360016.2:c.1311T>C MANE Select | NP_001346945.1:p.Tyr437= | |
| NM_001042351.3:c.1311T>C | NP_001035810.1:p.Tyr437= |