Linked Data
ClinVar Variation Id:
389491
dbSNP Id:
rs201361742
ExAC:
X:15339869 G / A
gnomAD v2:
X-15339869-G-A
gnomAD v3:
X-15321747-G-A
gnomAD v4:
X-15321747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321747G>A , CM000685.2:g.15321747G>A | GRCh38 |
| NC_000023.10:g.15339869G>A , CM000685.1:g.15339869G>A | GRCh37 |
| NC_000023.9:g.15249790G>A | NCBI36 |
| NG_009786.1:g.18792C>T , LRG_160:g.18792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1214C>T MANE Select | ENSP00000369820.3:p.Ala405Val | |
| ENST00000637296.1:c.269C>T | ENSP00000490545.1:p.Ala90Val | |
| ENST00000637626.1:c.*695C>T | ENSP00000489928.1:n.*695C>T | |
| ENST00000638131.1:c.*475C>T | ENSP00000490483.1:n.*475C>T | |
| ENST00000333590.5:c.1214C>T | ENSP00000369820.3:p.Ala405Val | |
| ENST00000463173.1:n.486C>T | ||
| ENST00000475746.1:c.107C>T | ENSP00000488970.1:p.Ala36Val | |
| ENST00000482148.6:c.707C>T | ENSP00000489528.1:p.Ala236Val | |
| ENST00000542278.6:c.1214C>T | ENSP00000442653.2:p.Ala405Val | |
| ENST00000634582.1:c.512C>T | ENSP00000489540.1:p.Ala171Val | |
| ENST00000634640.1:c.269C>T | ENSP00000489083.1:p.Ala90Val | |
| ENST00000635045.1:n.1447C>T | ||
| ENST00000635598.1:c.*483C>T | ENSP00000489207.1:n.*483C>T | |
| ENST00000635631.1:n.555C>T | ||
| NM_002641.3:c.1214C>T , LRG_160t1:c.1214C>T | NP_002632.1:p.Ala405Val | |
| NM_020473.3:c.512C>T | NP_065206.3:p.Ala171Val | |
| NR_033835.1:n.956C>T | ||
| NR_033836.1:n.672C>T | ||
| XM_011545539.1:c.521C>T | XP_011543841.1:p.Ala174Val | |
| XM_011545539.2:c.521C>T | XP_011543841.1:p.Ala174Val | |
| NM_002641.4:c.1214C>T MANE Select | NP_002632.1:p.Ala405Val |