Linked Data
ClinVar Variation Id:
5314
ClinVar RCV Id:
RCV000005639
RCV000481638
RCV001267056
RCV001851675
RCV003987313
RCV003230348
RCV004532293
dbSNP Id:
rs74315398
ExAC:
20:10393333 A / G
gnomAD v2:
20-10393333-A-G
gnomAD v3:
20-10412685-A-G
gnomAD v4:
20-10412685-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412685A>G , CM000682.2:g.10412685A>G | GRCh38 |
| NC_000020.10:g.10393333A>G , CM000682.1:g.10393333A>G | GRCh37 |
| NC_000020.9:g.10341333A>G | NCBI36 |
| NG_009109.1:g.26534T>C | |
| NG_009109.2:g.26534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.830T>C | ENSP00000498849.1:p.Leu277Pro | |
| ENST00000652676.1:n.474T>C | ||
| ENST00000347364.7:c.830T>C MANE Select | ENSP00000246062.4:p.Leu277Pro | |
| ENST00000399054.6:c.830T>C | ENSP00000382008.2:p.Leu277Pro | |
| NM_018848.3:c.830T>C | NP_061336.1:p.Leu277Pro | |
| NM_170784.2:c.830T>C | NP_740754.1:p.Leu277Pro | |
| NR_072977.1:n.364-3882T>C | ||
| NR_072977.2:n.347-3882T>C | ||
| NM_170784.3:c.830T>C MANE Select | NP_740754.1:p.Leu277Pro |