Linked Data
ClinVar Variation Id:
1083494
dbSNP Id:
rs144359050
ExAC:
X:48382218 A / C
gnomAD v2:
X-48382218-A-C
gnomAD v3:
X-48523830-A-C
gnomAD v4:
X-48523830-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523830A>C , CM000685.2:g.48523830A>C | GRCh38 |
| NC_000023.10:g.48382218A>C , CM000685.1:g.48382218A>C | GRCh37 |
| NC_000023.9:g.48267162A>C | NCBI36 |
| NG_007452.1:g.7055A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.59A>C MANE Select | ENSP00000417052.1:p.Asn20Thr | |
| ENST00000651615.1:c.59A>C | ENSP00000498524.1:p.Asn20Thr | |
| ENST00000276096.10:n.110-93A>C | ||
| ENST00000414061.1:c.59A>C | ENSP00000405832.1:p.Asn20Thr | |
| ENST00000446158.5:c.59A>C | ENSP00000390031.1:p.Asn20Thr | |
| ENST00000495186.5:c.59A>C | ENSP00000417052.1:p.Asn20Thr | |
| ENST00000498425.1:n.180A>C | ||
| NM_006579.2:c.59A>C | NP_006570.1:p.Asn20Thr | |
| NM_006579.3:c.59A>C MANE Select | NP_006570.1:p.Asn20Thr |