Linked Data
ClinVar Variation Id:
538832
ClinVar RCV Id:
RCV000648338
dbSNP Id:
rs147356355
ExAC:
22:23915477 C / T
gnomAD v2:
22-23915477-C-T
gnomAD v3:
22-23573290-C-T
gnomAD v4:
22-23573290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573290C>T , CM000684.2:g.23573290C>T | GRCh38 |
| NC_000022.10:g.23915477C>T , CM000684.1:g.23915477C>T | GRCh37 |
| NC_000022.9:g.22245477C>T | NCBI36 |
| NG_009791.1:g.12019G>A , LRG_69:g.12019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.618G>A MANE Select | ENSP00000329312.2:p.Thr206= | |
| ENST00000249053.3:c.*247G>A | ENSP00000249053.3:n.*247G>A | |
| ENST00000330377.2:c.618G>A | ENSP00000329312.2:p.Thr206= | |
| NM_020070.3:c.618G>A | NP_064455.1:p.Thr206= | |
| NM_152855.2:c.*247G>A | NP_690594.1:n.*247G>A | |
| XM_011530169.1:c.621G>A | XP_011528471.1:p.Thr207= | |
| XM_011530169.2:c.621G>A | XP_011528471.1:p.Thr207= | |
| NM_020070.4:c.618G>A MANE Select | NP_064455.1:p.Thr206= | |
| NM_001369906.1:c.621G>A | NP_001356835.1:p.Thr207= | |
| NM_152855.3:c.*247G>A | NP_690594.1:n.*247G>A |