Linked Data
ClinVar Variation Id:
2200389
ClinVar RCV Id:
RCV002638191
dbSNP Id:
rs782113493
gnomAD v4:
X-153694279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694279G>A , CM000685.2:g.153694279G>A | GRCh38 |
| NC_000023.10:g.152959734G>A , CM000685.1:g.152959734G>A | GRCh37 |
| NC_000023.9:g.152612928G>A | NCBI36 |
| NG_012016.1:g.10983G>A | |
| NG_012016.2:g.10983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1392+12G>A MANE Select | ENSP00000253122.5:n.1392+12G>A | |
| ENST00000253122.9:c.1392+12G>A | ENSP00000253122.5:n.1392+12G>A | |
| ENST00000413787.1:c.321+12G>A | ENSP00000400463.1:n.321+12G>A | |
| ENST00000430077.6:c.1047+12G>A | ENSP00000403041.2:n.1047+12G>A | |
| ENST00000442457.1:c.446+12G>A | ||
| ENST00000485324.1:n.1549G>A | ||
| NM_001142805.1:c.1362+12G>A | NP_001136277.1:n.1362+12G>A | |
| NM_001142806.1:c.1047+12G>A | NP_001136278.1:n.1047+12G>A | |
| NM_005629.3:c.1392+12G>A | NP_005620.1:n.1392+12G>A | |
| NM_005629.4:c.1392+12G>A MANE Select | NP_005620.1:n.1392+12G>A | |
| NM_001142805.2:c.1362+12G>A | NP_001136277.1:n.1362+12G>A |