Linked Data
ClinVar Variation Id:
67563
ClinVar RCV Id:
RCV000058299
dbSNP Id:
rs199473652
gnomAD v4:
17-70175259-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175259A>G , CM000679.2:g.70175259A>G | GRCh38 |
| NC_000017.10:g.68171400A>G , CM000679.1:g.68171400A>G | GRCh37 |
| NC_000017.9:g.65682995A>G | NCBI36 |
| NG_008798.1:g.10725A>G , LRG_328:g.10725A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.220A>G MANE Select | ENSP00000243457.2:p.Thr74Ala | |
| ENST00000243457.3:c.220A>G | ENSP00000243457.2:p.Thr74Ala | |
| ENST00000535240.1:c.220A>G | ENSP00000441848.1:p.Thr74Ala | |
| NM_000891.2:c.220A>G , LRG_328t1:c.220A>G | NP_000882.1:p.Thr74Ala | |
| XM_011524779.1:c.220A>G | XP_011523081.1:p.Thr74Ala | |
| NM_000891.3:c.220A>G MANE Select | NP_000882.1:p.Thr74Ala |