Linked Data
ClinVar Variation Id:
382857
ClinVar RCV Id:
RCV000419936
dbSNP Id:
rs1057521475
gnomAD v4:
X-86047479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.86047479C>T , CM000685.2:g.86047479C>T | GRCh38 |
| NC_000023.10:g.85302483C>T , CM000685.1:g.85302483C>T | GRCh37 |
| NC_000023.9:g.85189139C>T | NCBI36 |
| NG_009874.2:g.5084G>A , LRG_699:g.5084G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.49+5G>A MANE Select | ENSP00000350386.2:n.49+5G>A | |
| ENST00000357749.6:c.49+5G>A | ENSP00000350386.2:n.49+5G>A | |
| ENST00000483950.1:n.78+5G>A | ||
| ENST00000615443.1:c.49+5G>A | ENSP00000484306.1:n.49+5G>A | |
| NM_000390.2:c.49+5G>A , LRG_699t1:c.49+5G>A | NP_000381.1:n.49+5G>A | |
| NM_001145414.2:c.49+5G>A , LRG_699t2:c.49+5G>A | NP_001138886.1:n.49+5G>A | |
| NM_000390.3:c.49+5G>A | NP_000381.1:n.49+5G>A | |
| NM_001145414.3:c.49+5G>A | NP_001138886.1:n.49+5G>A | |
| XM_017029242.2:c.49+5G>A | XP_016884731.1:n.49+5G>A | |
| XM_017029246.1:c.-392+5G>A | XP_016884735.1:n.-392+5G>A | |
| NM_000390.4:c.49+5G>A MANE Select | NP_000381.1:n.49+5G>A | |
| NM_001145414.4:c.49+5G>A | NP_001138886.1:n.49+5G>A |