Linked Data
ClinVar Variation Id:
725086
dbSNP Id:
rs767104514
ExAC:
15:45409453 C / A
gnomAD v2:
15-45409453-C-A
gnomAD v3:
15-45117255-C-A
gnomAD v4:
15-45117255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45117255C>A , CM000677.2:g.45117255C>A | GRCh38 |
| NC_000015.9:g.45409453C>A , CM000677.1:g.45409453C>A | GRCh37 |
| NC_000015.8:g.43196745C>A | NCBI36 |
| NG_009447.1:g.1907G>T | |
| NG_016992.1:g.7931C>A | |
| NG_033105.1:g.17623G>T | |
| NG_033105.2:g.17623G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323030.6:c.719C>A MANE Select | ENSP00000319705.5:p.Ser240Tyr | |
| ENST00000323030.5:c.719C>A | ENSP00000319705.5:p.Ser240Tyr | |
| ENST00000350243.10:n.1360C>A | ||
| ENST00000491993.2:c.*786C>A | ENSP00000454110.1:n.*786C>A | |
| NM_207581.3:c.719C>A | NP_997464.2:p.Ser240Tyr | |
| XM_017022180.1:c.770C>A | XP_016877669.1:p.Ser257Tyr | |
| NM_207581.4:c.719C>A MANE Select | NP_997464.2:p.Ser240Tyr |