Linked Data
ClinVar Variation Id:
2192063
ClinVar RCV Id:
RCV002633083
dbSNP Id:
rs906163652
gnomAD v2:
15-90293839-G-A
gnomAD v3:
15-89750608-G-A
gnomAD v4:
15-89750608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89750608G>A , CM000677.2:g.89750608G>A | GRCh38 |
| NC_000015.9:g.90293839G>A , CM000677.1:g.90293839G>A | GRCh37 |
| NC_000015.8:g.88094843G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300057.5:c.624C>T MANE Select | ENSP00000300057.4:p.Pro208= | |
| ENST00000300057.4:c.624C>T | ENSP00000300057.4:p.Pro208= | |
| ENST00000559894.1:n.115-381C>T | ||
| NM_018670.3:c.624C>T | NP_061140.1:p.Pro208= | |
| XR_001751350.1:n.624C>T | ||
| XR_001751351.1:n.624C>T | ||
| XR_001751352.1:n.624C>T | ||
| XR_001751353.1:n.624C>T | ||
| XR_001751354.1:n.624C>T | ||
| NM_018670.4:c.624C>T MANE Select | NP_061140.1:p.Pro208= |