Linked Data
ClinVar Variation Id:
2886870
ClinVar RCV Id:
RCV003623755
dbSNP Id:
rs782117333
ExAC:
X:153761206 G / A
gnomAD v2:
X-153761206-G-A
gnomAD v3:
X-154532991-G-A
gnomAD v4:
X-154532991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532991G>A , CM000685.2:g.154532991G>A | GRCh38 |
| NC_000023.10:g.153761206G>A , CM000685.1:g.153761206G>A | GRCh37 |
| NC_000023.9:g.153414400G>A | NCBI36 |
| NG_009015.2:g.19582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1002C>T | ENSP00000377194.2:p.Thr334= | |
| ENST00000439227.6:c.1005C>T | ENSP00000395599.2:p.Thr335= | |
| ENST00000696420.1:c.1002C>T | ENSP00000512615.1:p.Thr334= | |
| ENST00000696421.1:c.1002C>T | ENSP00000512616.1:p.Thr334= | |
| ENST00000696422.1:c.865C>T | ||
| ENST00000696423.1:c.868C>T | ||
| ENST00000696424.1:c.854C>T | ENSP00000512619.1:n.854C>T | |
| ENST00000696425.1:c.865-189C>T | ENSP00000512620.1:n.865-189C>T | |
| ENST00000696426.1:c.*462C>T | ENSP00000512621.1:n.*462C>T | |
| ENST00000696427.1:c.1009C>T | ENSP00000512622.1:p.Arg337Cys | |
| ENST00000696428.1:c.*844C>T | ENSP00000512623.1:n.*844C>T | |
| ENST00000696429.1:c.1002C>T | ENSP00000512624.1:p.Thr334= | |
| ENST00000696430.1:c.1002C>T | ENSP00000512625.1:p.Thr334= | |
| ENST00000393562.10:c.1002C>T MANE Select | ENSP00000377192.3:p.Thr334= | |
| ENST00000369620.6:c.1140C>T | ENSP00000358633.2:p.Thr380= | |
| ENST00000393562.6:c.1092C>T | ENSP00000377192.2:p.Thr364= | |
| ENST00000393564.6:c.1002C>T | ENSP00000377194.2:p.Thr334= | |
| ENST00000439227.5:c.1005C>T | ENSP00000395599.1:p.Thr335= | |
| ENST00000490651.1:n.84C>T | ||
| ENST00000621232.4:c.1002C>T | ENSP00000483686.1:p.Thr334= | |
| NM_000402.4:c.1092C>T | NP_000393.4:p.Thr364= | |
| NM_001042351.2:c.1002C>T | NP_001035810.1:p.Thr334= | |
| XM_005274657.2:c.1095C>T | XP_005274714.1:p.Thr365= | |
| XM_005274658.2:c.1005C>T | XP_005274715.1:p.Thr335= | |
| XM_011531132.1:c.958-189C>T | XP_011529434.1:n.958-189C>T | |
| NM_001360016.2:c.1002C>T MANE Select | NP_001346945.1:p.Thr334= | |
| NM_001042351.3:c.1002C>T | NP_001035810.1:p.Thr334= |