Linked Data
ClinVar Variation Id:
4063
dbSNP Id:
rs119472027
gnomAD v2:
15-45398415-G-A
gnomAD v4:
15-45106217-G-A
PubMed:
PMID:12110737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45106217G>A , CM000677.2:g.45106217G>A | GRCh38 |
| NC_000015.9:g.45398415G>A , CM000677.1:g.45398415G>A | GRCh37 |
| NC_000015.8:g.43185707G>A | NCBI36 |
| NG_009447.1:g.12945C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389039.11:c.2056C>T MANE Select | ENSP00000373691.7:p.Gln686Ter | |
| ENST00000389039.10:c.2056C>T | ENSP00000373691.6:p.Gln686Ter | |
| ENST00000558383.1:n.3787C>T | ||
| ENST00000603300.1:c.2056C>T | ENSP00000475084.1:p.Gln686Ter | |
| NM_014080.4:c.2056C>T | NP_054799.4:p.Gln686Ter | |
| XM_005254421.2:c.2056C>T | XP_005254478.1:p.Gln686Ter | |
| NM_001363711.1:c.2056C>T | NP_001350640.1:p.Gln686Ter | |
| NM_001363711.2:c.2056C>T MANE Select | NP_001350640.1:p.Gln686Ter | |
| NM_014080.5:c.2056C>T | NP_054799.4:p.Gln686Ter |