Linked Data
ClinVar Variation Id:
10401
dbSNP Id:
rs137852339
ExAC:
X:153761259 C / T
gnomAD v2:
X-153761259-C-T
gnomAD v3:
X-154533044-C-T
gnomAD v4:
X-154533044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154533044C>T , CM000685.2:g.154533044C>T | GRCh38 |
| NC_000023.10:g.153761259C>T , CM000685.1:g.153761259C>T | GRCh37 |
| NC_000023.9:g.153414453C>T | NCBI36 |
| NG_009015.2:g.19529G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.949G>A | ENSP00000377194.2:p.Glu317Lys | |
| ENST00000439227.6:c.952G>A | ENSP00000395599.2:p.Glu318Lys | |
| ENST00000696420.1:c.949G>A | ENSP00000512615.1:p.Glu317Lys | |
| ENST00000696421.1:c.949G>A | ENSP00000512616.1:p.Glu317Lys | |
| ENST00000696422.1:c.812G>A | ||
| ENST00000696423.1:c.815G>A | ||
| ENST00000696424.1:c.801G>A | ENSP00000512619.1:n.801G>A | |
| ENST00000696425.1:c.865-242G>A | ENSP00000512620.1:n.865-242G>A | |
| ENST00000696426.1:c.*409G>A | ENSP00000512621.1:n.*409G>A | |
| ENST00000696427.1:c.956G>A | ENSP00000512622.1:p.Arg319Gln | |
| ENST00000696428.1:c.*791G>A | ENSP00000512623.1:n.*791G>A | |
| ENST00000696429.1:c.949G>A | ENSP00000512624.1:p.Glu317Lys | |
| ENST00000696430.1:c.949G>A | ENSP00000512625.1:p.Glu317Lys | |
| ENST00000393562.10:c.949G>A MANE Select | ENSP00000377192.3:p.Glu317Lys | |
| ENST00000369620.6:c.1087G>A | ENSP00000358633.2:p.Glu363Lys | |
| ENST00000393562.6:c.1039G>A | ENSP00000377192.2:p.Glu347Lys | |
| ENST00000393564.6:c.949G>A | ENSP00000377194.2:p.Glu317Lys | |
| ENST00000439227.5:c.952G>A | ENSP00000395599.1:p.Glu318Lys | |
| ENST00000440967.5:c.952G>A | ENSP00000400648.1:p.Glu318Lys | |
| ENST00000490651.1:n.31G>A | ||
| ENST00000621232.4:c.949G>A | ENSP00000483686.1:p.Glu317Lys | |
| NM_000402.4:c.1039G>A | NP_000393.4:p.Glu347Lys | |
| NM_001042351.2:c.949G>A | NP_001035810.1:p.Glu317Lys | |
| XM_005274657.2:c.1042G>A | XP_005274714.1:p.Glu348Lys | |
| XM_005274658.2:c.952G>A | XP_005274715.1:p.Glu318Lys | |
| XM_011531132.1:c.958-242G>A | XP_011529434.1:n.958-242G>A | |
| NM_001360016.2:c.949G>A MANE Select | NP_001346945.1:p.Glu317Lys | |
| NM_001042351.3:c.949G>A | NP_001035810.1:p.Glu317Lys |