Linked Data
ClinVar Variation Id:
158531
dbSNP Id:
rs3048
ExAC:
X:48382174 G / T
gnomAD v2:
X-48382174-G-T
gnomAD v3:
X-48523786-G-T
gnomAD v4:
X-48523786-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523786G>T , CM000685.2:g.48523786G>T | GRCh38 |
| NC_000023.10:g.48382174G>T , CM000685.1:g.48382174G>T | GRCh37 |
| NC_000023.9:g.48267118G>T | NCBI36 |
| NG_007452.1:g.7011G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.15G>T MANE Select | ENSP00000417052.1:p.Ala5= | |
| ENST00000651615.1:c.15G>T | ENSP00000498524.1:p.Ala5= | |
| ENST00000276096.10:n.110-137G>T | ||
| ENST00000414061.1:c.15G>T | ENSP00000405832.1:p.Ala5= | |
| ENST00000446158.5:c.15G>T | ENSP00000390031.1:p.Ala5= | |
| ENST00000495186.5:c.15G>T | ENSP00000417052.1:p.Ala5= | |
| ENST00000498425.1:n.136G>T | ||
| NM_006579.2:c.15G>T | NP_006570.1:p.Ala5= | |
| NM_006579.3:c.15G>T MANE Select | NP_006570.1:p.Ala5= |