Linked Data
ClinVar Variation Id:
1962399
ClinVar RCV Id:
RCV002726103
dbSNP Id:
rs757647951
ExAC:
17:17696948 G / T
gnomAD v2:
17-17696948-G-T
gnomAD v3:
17-17793634-G-T
gnomAD v4:
17-17793634-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793634G>T , CM000679.2:g.17793634G>T | GRCh38 |
| NC_000017.10:g.17696948G>T , CM000679.1:g.17696948G>T | GRCh37 |
| NC_000017.9:g.17637673G>T | NCBI36 |
| NG_007101.2:g.117162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.686G>T MANE Select | ENSP00000323074.4:p.Gly229Val | |
| ENST00000640861.1:c.621G>T | ENSP00000491773.1:p.Trp207Cys | |
| ENST00000353383.5:c.686G>T | ENSP00000323074.4:p.Gly229Val | |
| ENST00000395774.1:c.686G>T | ENSP00000379120.1:p.Gly229Val | |
| NM_030665.3:c.686G>T | NP_109590.3:p.Gly229Val | |
| XM_017024025.1:c.686G>T | XP_016879514.1:p.Gly229Val | |
| XM_017024026.1:c.686G>T | XP_016879515.1:p.Gly229Val | |
| XM_017024027.1:c.686G>T | XP_016879516.1:p.Gly229Val | |
| XM_017024028.2:c.686G>T | XP_016879517.1:p.Gly229Val | |
| NM_030665.4:c.686G>T MANE Select | NP_109590.3:p.Gly229Val |