Linked Data
ClinVar Variation Id:
2186732
ClinVar RCV Id:
RCV002606861
dbSNP Id:
rs765159713
ExAC:
21:19653406 C / T
gnomAD v2:
21-19653406-C-T
gnomAD v3:
21-18281089-C-T
gnomAD v4:
21-18281089-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281089C>T , CM000683.2:g.18281089C>T | GRCh38 |
| NC_000021.8:g.19653406C>T , CM000683.1:g.19653406C>T | GRCh37 |
| NC_000021.7:g.18575277C>T | NCBI36 |
| NG_012207.1:g.127565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2619G>A MANE Select | ENSP00000284885.3:p.Lys873= | |
| ENST00000284885.7:c.2619G>A | ENSP00000284885.3:p.Lys873= | |
| NM_002772.2:c.2619G>A | NP_002763.2:p.Lys873= | |
| XM_011529654.1:c.2754G>A | XP_011527956.1:p.Lys918= | |
| XM_011529655.1:c.2754G>A | XP_011527957.1:p.Lys918= | |
| XM_011529656.1:c.2754G>A | XP_011527958.1:p.Lys918= | |
| XM_011529657.1:c.2709G>A | XP_011527959.1:p.Lys903= | |
| XM_011529658.1:c.2673G>A | XP_011527960.1:p.Lys891= | |
| XM_011529659.1:c.2664G>A | XP_011527961.1:p.Lys888= | |
| XM_011529654.2:c.2754G>A | XP_011527956.1:p.Lys918= | |
| XM_011529656.2:c.2754G>A | XP_011527958.1:p.Lys918= | |
| XM_011529657.2:c.2709G>A | XP_011527959.1:p.Lys903= | |
| XM_011529658.2:c.2673G>A | XP_011527960.1:p.Lys891= | |
| NM_002772.3:c.2619G>A MANE Select | NP_002763.3:p.Lys873= |