Linked Data
ClinVar Variation Id:
372546
dbSNP Id:
rs1057517845
gnomAD v4:
X-48688097-G-A
COSMIC:
COSM1468233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688097G>A , CM000685.2:g.48688097G>A | GRCh38 |
| NC_000023.10:g.48546486G>A , CM000685.1:g.48546486G>A | GRCh37 |
| NC_000023.9:g.48431430G>A | NCBI36 |
| NG_007877.1:g.9301G>A , LRG_125:g.9301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.811G>A | ||
| ENST00000490627.2:n.215G>A | ||
| ENST00000698625.1:c.777+1G>A | ENSP00000513844.1:n.777+1G>A | |
| ENST00000698626.1:c.777+1G>A | ENSP00000513845.1:n.777+1G>A | |
| ENST00000698635.1:c.777+1G>A | ENSP00000513850.1:n.777+1G>A | |
| ENST00000376701.5:c.777+1G>A MANE Select | ENSP00000365891.4:n.777+1G>A | |
| ENST00000376701.4:c.777+1G>A | ENSP00000365891.4:n.777+1G>A | |
| ENST00000465982.5:n.678G>A | ||
| ENST00000483750.5:n.804G>A | ||
| ENST00000490627.1:n.198G>A | ||
| NM_000377.2:c.777+1G>A , LRG_125t1:c.777+1G>A | NP_000368.1:n.777+1G>A | |
| XM_011543977.1:c.777+1G>A | XP_011542279.1:n.777+1G>A | |
| XM_011543977.2:c.777+1G>A | XP_011542279.1:n.777+1G>A | |
| XM_017029786.1:c.777+1G>A | XP_016885275.1:n.777+1G>A | |
| NM_000377.3:c.777+1G>A MANE Select | NP_000368.1:n.777+1G>A |