Linked Data
ClinVar Variation Id:
1335260
ClinVar RCV Id:
RCV001815819
dbSNP Id:
rs1189500471
gnomAD v2:
17-17696949-T-C
gnomAD v4:
17-17793635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793635T>C , CM000679.2:g.17793635T>C | GRCh38 |
| NC_000017.10:g.17696949T>C , CM000679.1:g.17696949T>C | GRCh37 |
| NC_000017.9:g.17637674T>C | NCBI36 |
| NG_007101.2:g.117163T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.687T>C MANE Select | ENSP00000323074.4:p.Gly229= | |
| ENST00000640861.1:c.622T>C | ENSP00000491773.1:p.Trp208Arg | |
| ENST00000353383.5:c.687T>C | ENSP00000323074.4:p.Gly229= | |
| ENST00000395774.1:c.687T>C | ENSP00000379120.1:p.Gly229= | |
| NM_030665.3:c.687T>C | NP_109590.3:p.Gly229= | |
| XM_017024025.1:c.687T>C | XP_016879514.1:p.Gly229= | |
| XM_017024026.1:c.687T>C | XP_016879515.1:p.Gly229= | |
| XM_017024027.1:c.687T>C | XP_016879516.1:p.Gly229= | |
| XM_017024028.2:c.687T>C | XP_016879517.1:p.Gly229= | |
| NM_030665.4:c.687T>C MANE Select | NP_109590.3:p.Gly229= |