Linked Data
ClinVar Variation Id:
2601567
ClinVar RCV Id:
RCV003359381
dbSNP Id:
rs768688238
ExAC:
22:20779829 C / T
gnomAD v2:
22-20779829-C-T
gnomAD v3:
22-20425539-C-T
gnomAD v4:
22-20425539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425539C>T , CM000684.2:g.20425539C>T | GRCh38 |
| NC_000022.10:g.20779829C>T , CM000684.1:g.20779829C>T | GRCh37 |
| NC_000022.9:g.19109829C>T | NCBI36 |
| NG_031868.2:g.17321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2437G>A MANE Select | ENSP00000477564.2:p.Ala813Thr | |
| ENST00000615031.4:c.2449G>A | ENSP00000479389.1:p.Ala817Thr | |
| ENST00000622235.4:c.2437G>A | ENSP00000477564.1:p.Ala813Thr | |
| ENST00000623402.1:c.2452G>A | ENSP00000485276.1:p.Ala818Thr | |
| NM_153334.6:c.2452G>A | NP_699165.3:p.Ala818Thr | |
| NM_182895.4:c.2437G>A | NP_878315.2:p.Ala813Thr | |
| NM_153334.7:c.2452G>A | NP_699165.3:p.Ala818Thr | |
| NM_182895.5:c.2437G>A MANE Select | NP_878315.2:p.Ala813Thr |