Linked Data
ClinVar Variation Id:
749225
ClinVar RCV Id:
RCV000926080
dbSNP Id:
rs138516754
ExAC:
8:77776491 C / G
gnomAD v2:
8-77776491-C-G
gnomAD v3:
8-76864255-C-G
gnomAD v4:
8-76864255-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76864255C>G , CM000670.2:g.76864255C>G | GRCh38 |
| NC_000008.10:g.77776491C>G , CM000670.1:g.77776491C>G | GRCh37 |
| NC_000008.9:g.77939046C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651372.2:c.10541C>G MANE Select | ENSP00000498627.1:p.Thr3514Ser | |
| ENST00000518282.5:c.10463C>G | ENSP00000430848.1:p.Thr3488Ser | |
| ENST00000521891.6:c.10541C>G | ENSP00000430497.2:p.Thr3514Ser | |
| NM_024721.4:c.10541C>G | NP_078997.4:p.Thr3514Ser | |
| XM_011517592.1:c.10541C>G | XP_011515894.1:p.Thr3514Ser | |
| XM_011517593.1:c.10541C>G | XP_011515895.1:p.Thr3514Ser | |
| XM_011517594.1:c.10541C>G | XP_011515896.1:p.Thr3514Ser | |
| XM_011517595.1:c.10541C>G | XP_011515897.1:p.Thr3514Ser | |
| XM_011517596.1:c.10463C>G | XP_011515898.1:p.Thr3488Ser | |
| XM_011517597.1:c.10424C>G | XP_011515899.1:p.Thr3475Ser | |
| XM_011517592.3:c.10541C>G | XP_011515894.1:p.Thr3514Ser | |
| XM_011517593.2:c.10541C>G | XP_011515895.1:p.Thr3514Ser | |
| XM_011517594.2:c.10541C>G | XP_011515896.1:p.Thr3514Ser | |
| XM_011517595.2:c.10541C>G | XP_011515897.1:p.Thr3514Ser | |
| XM_011517596.2:c.10463C>G | XP_011515898.1:p.Thr3488Ser | |
| XM_011517597.2:c.10424C>G | XP_011515899.1:p.Thr3475Ser | |
| XM_017013845.1:c.10346C>G | XP_016869334.1:p.Thr3449Ser | |
| NM_024721.5:c.10541C>G MANE Select | NP_078997.4:p.Thr3514Ser |