Linked Data
ClinVar Variation Id:
2139092
ClinVar RCV Id:
RCV003050835
dbSNP Id:
rs782507563
ExAC:
X:37587399 C / A
gnomAD v2:
X-37587399-C-A
gnomAD v3:
X-37728146-C-A
gnomAD v4:
X-37728146-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37728146C>A , CM000685.2:g.37728146C>A | GRCh38 |
| NC_000023.10:g.37587399C>A , CM000685.1:g.37587399C>A | GRCh37 |
| NC_000023.9:g.37472338C>A | NCBI36 |
| NG_007473.1:g.47287C>A | |
| NG_007473.3:g.47267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.1019C>A MANE Select | ENSP00000367879.3:p.Thr340Asn | |
| ENST00000378616.3:c.1019C>A | ENSP00000367879.3:p.Thr340Asn | |
| ENST00000465127.1:c.171+302146C>A | ENSP00000417050.1:n.171+302146C>A | |
| NM_021083.2:c.1019C>A | NP_066569.1:p.Thr340Asn | |
| NM_021083.4:c.1019C>A MANE Select | NP_066569.1:p.Thr340Asn |