Linked Data
ClinVar Variation Id:
1093093
ClinVar RCV Id:
RCV001413155
dbSNP Id:
rs782797399
ExAC:
X:153760408 A / G
gnomAD v2:
X-153760408-A-G
gnomAD v3:
X-154532193-A-G
gnomAD v4:
X-154532193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532193A>G , CM000685.2:g.154532193A>G | GRCh38 |
| NC_000023.10:g.153760408A>G , CM000685.1:g.153760408A>G | GRCh37 |
| NC_000023.9:g.153413602A>G | NCBI36 |
| NG_009015.2:g.20380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1452T>C | ENSP00000377194.2:p.Tyr484= | |
| ENST00000439227.6:c.1455T>C | ENSP00000395599.2:p.Tyr485= | |
| ENST00000696420.1:c.1452T>C | ENSP00000512615.1:p.Tyr484= | |
| ENST00000696421.1:c.1452T>C | ENSP00000512616.1:p.Tyr484= | |
| ENST00000696422.1:c.1315T>C | ||
| ENST00000696423.1:c.1318T>C | ||
| ENST00000696424.1:c.1304T>C | ENSP00000512619.1:n.1304T>C | |
| ENST00000696425.1:c.*365T>C | ENSP00000512620.1:n.*365T>C | |
| ENST00000696426.1:c.*912T>C | ENSP00000512621.1:n.*912T>C | |
| ENST00000696427.1:c.*412T>C | ENSP00000512622.1:n.*412T>C | |
| ENST00000696428.1:c.*1294T>C | ENSP00000512623.1:n.*1294T>C | |
| ENST00000696429.1:c.1452T>C | ENSP00000512624.1:p.Tyr484= | |
| ENST00000696430.1:c.1452T>C | ENSP00000512625.1:p.Tyr484= | |
| ENST00000393562.10:c.1452T>C MANE Select | ENSP00000377192.3:p.Tyr484= | |
| ENST00000369620.6:c.1590T>C | ENSP00000358633.2:p.Tyr530= | |
| ENST00000393562.6:c.1542T>C | ENSP00000377192.2:p.Tyr514= | |
| ENST00000393564.6:c.1452T>C | ENSP00000377194.2:p.Tyr484= | |
| ENST00000490651.1:n.673T>C | ||
| ENST00000621232.4:c.1452T>C | ENSP00000483686.1:p.Tyr484= | |
| NM_000402.4:c.1542T>C | NP_000393.4:p.Tyr514= | |
| NM_001042351.2:c.1452T>C | NP_001035810.1:p.Tyr484= | |
| XM_005274657.2:c.1545T>C | XP_005274714.1:p.Tyr515= | |
| XM_005274658.2:c.1455T>C | XP_005274715.1:p.Tyr485= | |
| NM_001360016.2:c.1452T>C MANE Select | NP_001346945.1:p.Tyr484= | |
| NM_001042351.3:c.1452T>C | NP_001035810.1:p.Tyr484= |