Linked Data
ClinVar Variation Id:
1011441
ClinVar RCV Id:
RCV001309246
dbSNP Id:
rs767272852
ExAC:
21:45709944 T / C
gnomAD v2:
21-45709944-T-C
gnomAD v4:
21-44290061-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290061T>C , CM000683.2:g.44290061T>C | GRCh38 |
| NC_000021.8:g.45709944T>C , CM000683.1:g.45709944T>C | GRCh37 |
| NC_000021.7:g.44534372T>C | NCBI36 |
| NG_009556.1:g.9182T>C , LRG_18:g.9182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.872T>C MANE Select | ENSP00000291582.5:p.Leu291Pro | |
| ENST00000291582.5:c.872T>C | ENSP00000291582.5:p.Leu291Pro | |
| ENST00000527919.5:n.1605T>C | ||
| ENST00000530812.5:n.2622T>C | ||
| NM_000383.3:c.872T>C | NP_000374.1:p.Leu291Pro | |
| XM_011529551.1:c.872T>C | XP_011527853.1:p.Leu291Pro | |
| NM_000383.4:c.872T>C MANE Select | NP_000374.1:p.Leu291Pro |