Linked Data
ClinVar Variation Id:
322095
dbSNP Id:
rs141020107
ExAC:
17:17924535 C / A
gnomAD v2:
17-17924535-C-A
gnomAD v3:
17-18021221-C-A
gnomAD v4:
17-18021221-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18021221C>A , CM000679.2:g.18021221C>A | GRCh38 |
| NC_000017.10:g.17924535C>A , CM000679.1:g.17924535C>A | GRCh37 |
| NC_000017.9:g.17865260C>A | NCBI36 |
| NG_012824.1:g.22946G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474627.8:c.634G>T MANE Select | ENSP00000417190.2:p.Ala212Ser | |
| ENST00000462733.5:c.*51G>T | ENSP00000463920.1:n.*51G>T | |
| ENST00000465337.2:n.493G>T | ||
| ENST00000467560.5:n.44G>T | ||
| ENST00000469327.5:n.544G>T | ||
| ENST00000474627.7:c.634G>T | ENSP00000417190.2:p.Ala212Ser | |
| ENST00000488753.1:n.429G>T | ||
| ENST00000496852.5:n.1139G>T | ||
| ENST00000581698.1:c.49-2535G>T | ||
| ENST00000584205.5:c.*33+3403G>T | ENSP00000462899.1:n.*33+3403G>T | |
| ENST00000585101.5:c.*33+3403G>T | ENSP00000463861.1:n.*33+3403G>T | |
| NM_145691.3:c.634G>T | NP_663729.1:p.Ala212Ser | |
| XM_005256848.2:c.634G>T | XP_005256905.1:p.Ala212Ser | |
| XM_011524062.1:c.634G>T | XP_011522364.1:p.Ala212Ser | |
| XM_011524063.1:c.634G>T | XP_011522365.1:p.Ala212Ser | |
| XM_011524064.1:c.334G>T | XP_011522366.1:p.Ala112Ser | |
| XM_011524065.1:c.634G>T | XP_011522367.1:p.Ala212Ser | |
| XM_011524066.1:c.97G>T | XP_011522368.1:p.Ala33Ser | |
| XR_934116.1:n.1032G>T | ||
| XM_005256848.4:c.634G>T | XP_005256905.1:p.Ala212Ser | |
| XM_011524065.2:c.634G>T | XP_011522367.1:p.Ala212Ser | |
| XM_017025302.1:c.334G>T | XP_016880791.1:p.Ala112Ser | |
| XM_017025303.1:c.334G>T | XP_016880792.1:p.Ala112Ser | |
| XR_001752677.2:n.1031G>T | ||
| NM_145691.4:c.634G>T MANE Select | NP_663729.1:p.Ala212Ser |