Linked Data
ClinVar Variation Id:
887283
ClinVar RCV Id:
RCV001119930
dbSNP Id:
rs779426726
ExAC:
15:80454681 A / G
gnomAD v2:
15-80454681-A-G
gnomAD v4:
15-80162339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80162339A>G , CM000677.2:g.80162339A>G | GRCh38 |
| NC_000015.9:g.80454681A>G , CM000677.1:g.80454681A>G | GRCh37 |
| NC_000015.8:g.78241736A>G | NCBI36 |
| NG_012833.1:g.14341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.458A>G | ENSP00000507680.1:p.Tyr153Cys | |
| ENST00000682012.1:n.530+3A>G | ||
| ENST00000683593.1:n.2121A>G | ||
| ENST00000684363.1:c.365-53A>G | ENSP00000507314.1:n.365-53A>G | |
| ENST00000684569.1:n.500+3A>G | ||
| ENST00000561421.6:c.455+3A>G MANE Select | ENSP00000453347.2:n.455+3A>G | |
| ENST00000646551.1:n.1942+3A>G | ||
| ENST00000261755.9:c.455+3A>G | ENSP00000261755.5:n.455+3A>G | |
| ENST00000407106.5:c.455+3A>G | ENSP00000385080.1:n.455+3A>G | |
| ENST00000537726.5:n.604A>G | ||
| ENST00000539156.5:c.245+3A>G | ENSP00000454271.1:n.245+3A>G | |
| ENST00000558022.5:c.455+3A>G | ENSP00000453152.1:n.455+3A>G | |
| ENST00000558627.1:n.383+3A>G | ||
| ENST00000558767.5:n.719A>G | ||
| ENST00000561369.1:n.602A>G | ||
| ENST00000561421.5:c.455+3A>G | ENSP00000453347.1:n.455+3A>G | |
| NM_000137.2:c.455+3A>G | NP_000128.1:n.455+3A>G | |
| XM_024449872.1:c.455+3A>G | XP_024305640.1:n.455+3A>G | |
| NM_000137.4:c.455+3A>G MANE Select | NP_000128.1:n.455+3A>G | |
| NM_001374377.1:c.455+3A>G | NP_001361306.1:n.455+3A>G | |
| NM_001374380.1:c.455+3A>G | NP_001361309.1:n.455+3A>G |