Linked Data
dbSNP Id:
rs148485224
ExAC:
17:17696916 C / A
gnomAD v2:
17-17696916-C-A
gnomAD v3:
17-17793602-C-A
gnomAD v4:
17-17793602-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793602C>A , CM000679.2:g.17793602C>A | GRCh38 |
| NC_000017.10:g.17696916C>A , CM000679.1:g.17696916C>A | GRCh37 |
| NC_000017.9:g.17637641C>A | NCBI36 |
| NG_007101.2:g.117130C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.654C>A MANE Select | ENSP00000323074.4:p.Thr218= | |
| ENST00000640861.1:c.617-28C>A | ENSP00000491773.1:n.617-28C>A | |
| ENST00000353383.5:c.654C>A | ENSP00000323074.4:p.Thr218= | |
| ENST00000395774.1:c.654C>A | ENSP00000379120.1:p.Thr218= | |
| NM_030665.3:c.654C>A | NP_109590.3:p.Thr218= | |
| XM_017024025.1:c.654C>A | XP_016879514.1:p.Thr218= | |
| XM_017024026.1:c.654C>A | XP_016879515.1:p.Thr218= | |
| XM_017024027.1:c.654C>A | XP_016879516.1:p.Thr218= | |
| XM_017024028.2:c.654C>A | XP_016879517.1:p.Thr218= | |
| NM_030665.4:c.654C>A MANE Select | NP_109590.3:p.Thr218= |