Linked Data
ClinVar Variation Id:
1115261
ClinVar RCV Id:
RCV001443249
dbSNP Id:
rs775304437
ExAC:
21:45708316 C / T
gnomAD v2:
21-45708316-C-T
gnomAD v3:
21-44288433-C-T
gnomAD v4:
21-44288433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288433C>T , CM000683.2:g.44288433C>T | GRCh38 |
| NC_000021.8:g.45708316C>T , CM000683.1:g.45708316C>T | GRCh37 |
| NC_000021.7:g.44532744C>T | NCBI36 |
| NG_009556.1:g.7554C>T , LRG_18:g.7554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.627C>T MANE Select | ENSP00000291582.5:p.Ile209= | |
| ENST00000291582.5:c.627C>T | ENSP00000291582.5:p.Ile209= | |
| ENST00000527919.5:n.1171C>T | ||
| ENST00000530812.5:n.1179C>T | ||
| NM_000383.3:c.627C>T | NP_000374.1:p.Ile209= | |
| XM_011529551.1:c.627C>T | XP_011527853.1:p.Ile209= | |
| NM_000383.4:c.627C>T MANE Select | NP_000374.1:p.Ile209= |