Linked Data
ClinVar Variation Id:
2939507
ClinVar RCV Id:
RCV003794673
dbSNP Id:
rs2077653394
gnomAD v4:
X-134486543-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134486543A>G , CM000685.2:g.134486543A>G | GRCh38 |
| NC_000023.10:g.133620573A>G , CM000685.1:g.133620573A>G | GRCh37 |
| NC_000023.9:g.133448239A>G | NCBI36 |
| NG_012329.1:g.31399A>G | |
| NG_012329.2:g.31399A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.384+13A>G MANE Select | ENSP00000298556.7:n.384+13A>G | |
| ENST00000298556.7:c.384+13A>G | ENSP00000298556.7:n.384+13A>G | |
| ENST00000462974.5:n.542+13A>G | ||
| ENST00000475720.1:n.342+13A>G | ||
| NM_000194.2:c.384+13A>G | NP_000185.1:n.384+13A>G | |
| XM_011531328.1:c.402+13A>G | XP_011529630.1:n.402+13A>G | |
| NM_000194.3:c.384+13A>G MANE Select | NP_000185.1:n.384+13A>G |