Linked Data
ClinVar Variation Id:
2517151
ClinVar RCV Id:
RCV004291910
dbSNP Id:
rs996188894
gnomAD v2:
8-18258262-C-A
gnomAD v3:
8-18400752-C-A
gnomAD v4:
8-18400752-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400752C>A , CM000670.2:g.18400752C>A | GRCh38 |
| NC_000008.10:g.18258262C>A , CM000670.1:g.18258262C>A | GRCh37 |
| NC_000008.9:g.18302542C>A | NCBI36 |
| NG_012246.1:g.14508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.749C>A MANE Select | ENSP00000286479.3:p.Thr250Lys | |
| ENST00000286479.3:c.749C>A | ENSP00000286479.3:p.Thr250Lys | |
| ENST00000520116.1:c.359C>A | ENSP00000428416.1:p.Thr120Lys | |
| NM_000015.2:c.749C>A | NP_000006.2:p.Thr250Lys | |
| XM_011544358.1:c.749C>A | XP_011542660.1:p.Thr250Lys | |
| XM_017012938.1:c.749C>A | XP_016868427.1:p.Thr250Lys | |
| NM_000015.3:c.749C>A MANE Select | NP_000006.2:p.Thr250Lys |