Linked Data
ClinVar Variation Id:
323293
dbSNP Id:
rs181735466
gnomAD v2:
17-40688460-C-G
gnomAD v3:
17-42536442-C-G
gnomAD v4:
17-42536442-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536442C>G , CM000679.2:g.42536442C>G | GRCh38 |
| NC_000017.10:g.40688460C>G , CM000679.1:g.40688460C>G | GRCh37 |
| NC_000017.9:g.37941986C>G | NCBI36 |
| NG_011552.1:g.5510C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.170C>G MANE Select | ENSP00000225927.1:p.Ala57Gly | |
| ENST00000225927.6:c.170C>G | ENSP00000225927.1:p.Ala57Gly | |
| NM_000263.3:c.170C>G | NP_000254.2:p.Ala57Gly | |
| XM_024450771.1:c.170C>G | XP_024306539.1:p.Ala57Gly | |
| NM_000263.4:c.170C>G MANE Select | NP_000254.2:p.Ala57Gly |