Linked Data
ClinVar Variation Id:
2068273
ClinVar RCV Id:
RCV002971040
dbSNP Id:
rs374166240
ExAC:
15:90294004 C / G
gnomAD v2:
15-90294004-C-G
gnomAD v3:
15-89750773-C-G
gnomAD v4:
15-89750773-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89750773C>G , CM000677.2:g.89750773C>G | GRCh38 |
| NC_000015.9:g.90294004C>G , CM000677.1:g.90294004C>G | GRCh37 |
| NC_000015.8:g.88095008C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300057.5:c.459G>C MANE Select | ENSP00000300057.4:p.Gln153His | |
| ENST00000300057.4:c.459G>C | ENSP00000300057.4:p.Gln153His | |
| ENST00000559894.1:n.114+251G>C | ||
| NM_018670.3:c.459G>C | NP_061140.1:p.Gln153His | |
| XR_001751350.1:n.459G>C | ||
| XR_001751351.1:n.459G>C | ||
| XR_001751352.1:n.459G>C | ||
| XR_001751353.1:n.459G>C | ||
| XR_001751354.1:n.459G>C | ||
| NM_018670.4:c.459G>C MANE Select | NP_061140.1:p.Gln153His |