Linked Data
ClinVar Variation Id:
1455586
ClinVar RCV Id:
RCV001958650
dbSNP Id:
rs1268482591
gnomAD v2:
15-80452138-G-A
gnomAD v3:
15-80159796-G-A
gnomAD v4:
15-80159796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159796G>A , CM000677.2:g.80159796G>A | GRCh38 |
| NC_000015.9:g.80452138G>A , CM000677.1:g.80452138G>A | GRCh37 |
| NC_000015.8:g.78239193G>A | NCBI36 |
| NG_012833.1:g.11798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.233G>A | ENSP00000507680.1:p.Trp78Ter | |
| ENST00000682012.1:n.308G>A | ||
| ENST00000683593.1:n.110G>A | ||
| ENST00000684363.1:c.233G>A | ENSP00000507314.1:p.Trp78Ter | |
| ENST00000684569.1:n.278G>A | ||
| ENST00000561421.6:c.233G>A MANE Select | ENSP00000453347.2:p.Trp78Ter | |
| ENST00000646551.1:n.1720G>A | ||
| ENST00000261755.9:c.233G>A | ENSP00000261755.5:p.Trp78Ter | |
| ENST00000407106.5:c.233G>A | ENSP00000385080.1:p.Trp78Ter | |
| ENST00000537726.5:n.315G>A | ||
| ENST00000539156.5:c.23G>A | ENSP00000454271.1:p.Trp8Ter | |
| ENST00000558022.5:c.233G>A | ENSP00000453152.1:p.Trp78Ter | |
| ENST00000558767.5:n.494G>A | ||
| ENST00000561369.1:n.313G>A | ||
| ENST00000561421.5:c.233G>A | ENSP00000453347.1:p.Trp78Ter | |
| NM_000137.2:c.233G>A | NP_000128.1:p.Trp78Ter | |
| XM_024449872.1:c.233G>A | XP_024305640.1:p.Trp78Ter | |
| NM_000137.4:c.233G>A MANE Select | NP_000128.1:p.Trp78Ter | |
| NM_001374377.1:c.233G>A | NP_001361306.1:p.Trp78Ter | |
| NM_001374380.1:c.233G>A | NP_001361309.1:p.Trp78Ter |