Linked Data
ClinVar Variation Id:
1014456
ClinVar RCV Id:
RCV001313189
dbSNP Id:
rs774546648
ExAC:
X:15339696 C / T
gnomAD v2:
X-15339696-C-T
gnomAD v3:
X-15321574-C-T
gnomAD v4:
X-15321574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321574C>T , CM000685.2:g.15321574C>T | GRCh38 |
| NC_000023.10:g.15339696C>T , CM000685.1:g.15339696C>T | GRCh37 |
| NC_000023.9:g.15249617C>T | NCBI36 |
| NG_009786.1:g.18965G>A , LRG_160:g.18965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1387G>A MANE Select | ENSP00000369820.3:p.Ala463Thr | |
| ENST00000637296.1:c.442G>A | ENSP00000490545.1:p.Ala148Thr | |
| ENST00000637626.1:c.*868G>A | ENSP00000489928.1:n.*868G>A | |
| ENST00000638131.1:c.*648G>A | ENSP00000490483.1:n.*648G>A | |
| ENST00000333590.5:c.1387G>A | ENSP00000369820.3:p.Ala463Thr | |
| ENST00000482148.6:c.880G>A | ENSP00000489528.1:p.Ala294Thr | |
| ENST00000542278.6:c.1387G>A | ENSP00000442653.2:p.Ala463Thr | |
| ENST00000634582.1:c.685G>A | ENSP00000489540.1:p.Ala229Thr | |
| ENST00000634640.1:c.442G>A | ENSP00000489083.1:p.Ala148Thr | |
| ENST00000635045.1:n.1620G>A | ||
| ENST00000635598.1:c.*656G>A | ENSP00000489207.1:n.*656G>A | |
| ENST00000635631.1:n.728G>A | ||
| NM_002641.3:c.1387G>A , LRG_160t1:c.1387G>A | NP_002632.1:p.Ala463Thr | |
| NM_020473.3:c.685G>A | NP_065206.3:p.Ala229Thr | |
| NR_033835.1:n.1129G>A | ||
| NR_033836.1:n.845G>A | ||
| XM_011545539.1:c.694G>A | XP_011543841.1:p.Ala232Thr | |
| XM_011545539.2:c.694G>A | XP_011543841.1:p.Ala232Thr | |
| NM_002641.4:c.1387G>A MANE Select | NP_002632.1:p.Ala463Thr |