Linked Data
ClinVar Variation Id:
417788
dbSNP Id:
rs748014296
ExAC:
8:96259914 C / T
gnomAD v2:
8-96259914-C-T
gnomAD v4:
8-95247686-C-T
PubMed:
PMID:25802487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247686C>T , CM000670.2:g.95247686C>T | GRCh38 |
| NC_000008.10:g.96259914C>T , CM000670.1:g.96259914C>T | GRCh37 |
| NC_000008.9:g.96329090C>T | NCBI36 |
| NG_032804.1:g.26549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.555G>A MANE Select | ENSP00000286688.5:p.Trp185Ter | |
| ENST00000286688.5:c.555G>A | ENSP00000286688.5:p.Trp185Ter | |
| NM_177965.3:c.555G>A | NP_808880.1:p.Trp185Ter | |
| XM_005250799.2:c.798G>A | XP_005250856.2:p.Trp266Ter | |
| NM_001363260.1:c.459G>A | NP_001350189.1:p.Trp153Ter | |
| NM_177965.4:c.555G>A MANE Select | NP_808880.1:p.Trp185Ter |