Linked Data
ClinVar Variation Id:
370436
ClinVar RCV Id:
RCV000411834
dbSNP Id:
rs1057516487
gnomAD v4:
1-183232186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183232186G>A , CM000663.2:g.183232186G>A | GRCh38 |
| NC_000001.10:g.183201321G>A , CM000663.1:g.183201321G>A | GRCh37 |
| NC_000001.9:g.181467944G>A | NCBI36 |
| NG_007079.2:g.50923G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.1858-1G>A MANE Select | ENSP00000264144.4:n.1858-1G>A | |
| ENST00000264144.4:c.1858-1G>A | ENSP00000264144.4:n.1858-1G>A | |
| ENST00000493293.5:c.1858-1G>A | ENSP00000432063.1:n.1858-1G>A | |
| NM_005562.2:c.1858-1G>A | NP_005553.2:n.1858-1G>A | |
| NM_018891.2:c.1858-1G>A | NP_061486.2:n.1858-1G>A | |
| XM_017001273.2:c.1858-1G>A | XP_016856762.1:n.1858-1G>A | |
| NM_005562.3:c.1858-1G>A MANE Select | NP_005553.2:n.1858-1G>A | |
| NM_018891.3:c.1858-1G>A | NP_061486.2:n.1858-1G>A |