Linked Data
ClinVar Variation Id:
1402397
ClinVar RCV Id:
RCV001906421
dbSNP Id:
rs144238669
ExAC:
17:40695768 G / A
gnomAD v2:
17-40695768-G-A
gnomAD v3:
17-42543750-G-A
gnomAD v4:
17-42543750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543750G>A , CM000679.2:g.42543750G>A | GRCh38 |
| NC_000017.10:g.40695768G>A , CM000679.1:g.40695768G>A | GRCh37 |
| NC_000017.9:g.37949294G>A | NCBI36 |
| NG_011552.1:g.12818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1744G>A MANE Select | ENSP00000225927.1:p.Ala582Thr | |
| ENST00000225927.6:c.1744G>A | ENSP00000225927.1:p.Ala582Thr | |
| ENST00000591587.1:c.1082G>A | ENSP00000467836.1:n.1082G>A | |
| NM_000263.3:c.1744G>A | NP_000254.2:p.Ala582Thr | |
| XM_006721920.2:c.913G>A | XP_006721983.1:p.Ala305Thr | |
| XM_011524840.1:c.745G>A | XP_011523142.1:p.Ala249Thr | |
| XM_017024687.1:c.913G>A | XP_016880176.1:p.Ala305Thr | |
| XM_024450771.1:c.1801G>A | XP_024306539.1:p.Ala601Thr | |
| XM_024450772.1:c.745G>A | XP_024306540.1:p.Ala249Thr | |
| NM_000263.4:c.1744G>A MANE Select | NP_000254.2:p.Ala582Thr |