Linked Data
ClinVar Variation Id:
1629673
ClinVar RCV Id:
RCV002118486
dbSNP Id:
rs777660144
ExAC:
X:38263010 C / T
gnomAD v2:
X-38263010-C-T
gnomAD v3:
X-38403757-C-T
gnomAD v4:
X-38403757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403757C>T , CM000685.2:g.38403757C>T | GRCh38 |
| NC_000023.10:g.38263010C>T , CM000685.1:g.38263010C>T | GRCh37 |
| NC_000023.9:g.38147954C>T | NCBI36 |
| NG_008471.1:g.56275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.663+17C>T MANE Select | ENSP00000039007.4:n.663+17C>T | |
| ENST00000643344.1:c.*413+17C>T | ENSP00000496606.1:n.*413+17C>T | |
| ENST00000039007.4:c.663+17C>T | ENSP00000039007.4:n.663+17C>T | |
| ENST00000465127.1:c.172-262364C>T | ENSP00000417050.1:n.172-262364C>T | |
| NM_000531.5:c.663+17C>T | NP_000522.3:n.663+17C>T | |
| XM_017029556.1:c.663+17C>T | XP_016885045.1:n.663+17C>T | |
| NM_000531.6:c.663+17C>T MANE Select | NP_000522.3:n.663+17C>T |