Linked Data
ClinVar Variation Id:
572143
ClinVar RCV Id:
RCV000693458
dbSNP Id:
rs140196414
ExAC:
21:45708288 C / T
gnomAD v2:
21-45708288-C-T
gnomAD v3:
21-44288405-C-T
gnomAD v4:
21-44288405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288405C>T , CM000683.2:g.44288405C>T | GRCh38 |
| NC_000021.8:g.45708288C>T , CM000683.1:g.45708288C>T | GRCh37 |
| NC_000021.7:g.44532716C>T | NCBI36 |
| NG_009556.1:g.7526C>T , LRG_18:g.7526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.599C>T MANE Select | ENSP00000291582.5:p.Pro200Leu | |
| ENST00000291582.5:c.599C>T | ENSP00000291582.5:p.Pro200Leu | |
| ENST00000527919.5:n.1143C>T | ||
| ENST00000530812.5:n.1151C>T | ||
| NM_000383.3:c.599C>T | NP_000374.1:p.Pro200Leu | |
| XM_011529551.1:c.599C>T | XP_011527853.1:p.Pro200Leu | |
| NM_000383.4:c.599C>T MANE Select | NP_000374.1:p.Pro200Leu |