Linked Data
ClinVar Variation Id:
2962763
ClinVar RCV Id:
RCV003827873
dbSNP Id:
rs754025732
ExAC:
15:65456490 A / G
gnomAD v2:
15-65456490-A-G
gnomAD v3:
15-65164152-A-G
gnomAD v4:
15-65164152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65164152A>G , CM000677.2:g.65164152A>G | GRCh38 |
| NC_000015.9:g.65456490A>G , CM000677.1:g.65456490A>G | GRCh37 |
| NC_000015.8:g.63243543A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300107.7:c.550T>C MANE Select | ENSP00000300107.3:p.Ser184Pro | |
| ENST00000558958.1:n.739T>C | ||
| ENST00000559152.5:c.550T>C | ENSP00000453461.1:p.Ser184Pro | |
| NM_006660.3:c.550T>C | NP_006651.2:p.Ser184Pro | |
| XM_011521164.1:c.550T>C | XP_011519466.1:p.Ser184Pro | |
| XR_931743.1:n.801T>C | ||
| NM_006660.4:c.550T>C | NP_006651.2:p.Ser184Pro | |
| NR_133680.1:n.817T>C | ||
| XM_011521164.3:c.550T>C | XP_011519466.1:p.Ser184Pro | |
| XR_931743.3:n.771T>C | ||
| NM_006660.5:c.550T>C MANE Select | NP_006651.2:p.Ser184Pro | |
| NR_133680.2:n.739T>C |