Linked Data
ClinVar Variation Id:
2155674
ClinVar RCV Id:
RCV003090729
dbSNP Id:
rs765774149
ExAC:
17:40693188 G / A
gnomAD v2:
17-40693188-G-A
gnomAD v3:
17-42541170-G-A
gnomAD v4:
17-42541170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541170G>A , CM000679.2:g.42541170G>A | GRCh38 |
| NC_000017.10:g.40693188G>A , CM000679.1:g.40693188G>A | GRCh37 |
| NC_000017.9:g.37946714G>A | NCBI36 |
| NG_011552.1:g.10238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.985G>A MANE Select | ENSP00000225927.1:p.Ala329Thr | |
| ENST00000225927.6:c.985G>A | ENSP00000225927.1:p.Ala329Thr | |
| ENST00000591587.1:c.360-1858G>A | ENSP00000467836.1:n.360-1858G>A | |
| ENST00000592454.1:c.80G>A | ||
| NM_000263.3:c.985G>A | NP_000254.2:p.Ala329Thr | |
| XM_006721920.2:c.154G>A | XP_006721983.1:p.Ala52Thr | |
| XM_011524840.1:c.23-1858G>A | XP_011523142.1:n.23-1858G>A | |
| XM_017024687.1:c.154G>A | XP_016880176.1:p.Ala52Thr | |
| XM_024450771.1:c.1042G>A | XP_024306539.1:p.Ala348Thr | |
| XM_024450772.1:c.23-1858G>A | XP_024306540.1:n.23-1858G>A | |
| NM_000263.4:c.985G>A MANE Select | NP_000254.2:p.Ala329Thr |