Linked Data
ClinVar Variation Id:
424859
ClinVar RCV Id:
RCV000487483
dbSNP Id:
rs1064797092
gnomAD v2:
14-59112597-G-A
gnomAD v4:
14-58645879-G-A
PubMed:
PMID:28054444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58645879G>A , CM000676.2:g.58645879G>A | GRCh38 |
| NC_000014.8:g.59112597G>A , CM000676.1:g.59112597G>A | GRCh37 |
| NC_000014.7:g.58182350G>A | NCBI36 |
| NG_032025.1:g.16812G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707126.1:c.1145G>A | ENSP00000516754.1:p.Trp382Ter | |
| ENST00000395153.8:c.1145G>A MANE Select | ENSP00000378582.3:p.Trp382Ter | |
| ENST00000335867.4:c.1256G>A | ENSP00000337439.4:p.Trp419Ter | |
| ENST00000395153.7:c.1145G>A | ENSP00000378582.3:p.Trp382Ter | |
| ENST00000541264.2:c.413G>A | ENSP00000442850.2:p.Trp138Ter | |
| ENST00000556859.5:c.413G>A | ENSP00000451598.1:p.Trp138Ter | |
| NM_001079520.1:c.1145G>A | NP_001072988.1:p.Trp382Ter | |
| NM_016651.5:c.1256G>A | NP_057735.2:p.Trp419Ter | |
| NR_046093.1:n.918G>A | ||
| NR_046095.1:n.1226G>A | ||
| XM_006720167.2:c.413G>A | XP_006720230.1:p.Trp138Ter | |
| XM_006720167.3:c.413G>A | XP_006720230.1:p.Trp138Ter | |
| NM_001079520.2:c.1145G>A MANE Select | NP_001072988.1:p.Trp382Ter | |
| NM_016651.6:c.1256G>A | NP_057735.2:p.Trp419Ter | |
| NR_046093.2:n.925G>A | ||
| NR_165650.1:n.1036G>A | ||
| NR_165651.1:n.1305G>A | ||
| NR_165652.1:n.1337G>A |