Linked Data
dbSNP Id:
rs141949869
ExAC:
17:39023279 C / G
gnomAD v2:
17-39023279-C-G
gnomAD v3:
17-40867027-C-G
gnomAD v4:
17-40867027-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867027C>G , CM000679.2:g.40867027C>G | GRCh38 |
| NC_000017.10:g.39023279C>G , CM000679.1:g.39023279C>G | GRCh37 |
| NC_000017.9:g.36276805C>G | NCBI36 |
| NG_008077.1:g.5184G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.160G>C MANE Select | ENSP00000251643.4:p.Gly54Arg | |
| ENST00000647902.1:c.160G>C | ENSP00000497770.1:p.Gly54Arg | |
| ENST00000251643.4:c.160G>C | ENSP00000251643.4:p.Gly54Arg | |
| NM_000223.3:c.160G>C | NP_000214.1:p.Gly54Arg | |
| XR_934754.1:n.1500+16167C>G | ||
| XR_934754.2:n.2008+16167C>G | ||
| NM_000223.4:c.160G>C MANE Select | NP_000214.1:p.Gly54Arg |