Linked Data
ClinVar Variation Id:
225343
dbSNP Id:
rs199589510
ExAC:
15:45396159 G / A
gnomAD v2:
15-45396159-G-A
gnomAD v3:
15-45103961-G-A
gnomAD v4:
15-45103961-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45103961G>A , CM000677.2:g.45103961G>A | GRCh38 |
| NC_000015.9:g.45396159G>A , CM000677.1:g.45396159G>A | GRCh37 |
| NC_000015.8:g.43183451G>A | NCBI36 |
| NG_009447.1:g.15201C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389039.11:c.2653C>T MANE Select | ENSP00000373691.7:p.Arg885Ter | |
| ENST00000389039.10:c.2653C>T | ENSP00000373691.6:p.Arg885Ter | |
| ENST00000558383.1:n.4384C>T | ||
| ENST00000603300.1:c.2653C>T | ENSP00000475084.1:p.Arg885Ter | |
| NM_014080.4:c.2653C>T | NP_054799.4:p.Arg885Ter | |
| XM_005254421.2:c.2653C>T | XP_005254478.1:p.Arg885Ter | |
| NM_001363711.1:c.2653C>T | NP_001350640.1:p.Arg885Ter | |
| NM_001363711.2:c.2653C>T MANE Select | NP_001350640.1:p.Arg885Ter | |
| NM_014080.5:c.2653C>T | NP_054799.4:p.Arg885Ter |