Linked Data
ClinVar Variation Id:
2949747
ClinVar RCV Id:
RCV003804913
dbSNP Id:
rs140638938
ExAC:
17:7909969 G / C
gnomAD v2:
17-7909969-G-C
gnomAD v3:
17-8006651-G-C
gnomAD v4:
17-8006651-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8006651G>C , CM000679.2:g.8006651G>C | GRCh38 |
| NC_000017.10:g.7909969G>C , CM000679.1:g.7909969G>C | GRCh37 |
| NC_000017.9:g.7850694G>C | NCBI36 |
| NG_009092.1:g.8982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1315G>C MANE Select | ENSP00000254854.4:p.Gly439Arg | |
| ENST00000254854.4:c.1315G>C | ENSP00000254854.4:p.Gly439Arg | |
| NM_000180.3:c.1315G>C | NP_000171.1:p.Gly439Arg | |
| XM_011523816.1:c.1315G>C | XP_011522118.1:p.Gly439Arg | |
| NM_000180.4:c.1315G>C MANE Select | NP_000171.1:p.Gly439Arg |