Linked Data
ClinVar Variation Id:
214459
dbSNP Id:
rs515726229
ExAC:
17:41063034 G / C
gnomAD v2:
17-41063034-G-C
gnomAD v3:
17-42911017-G-C
gnomAD v4:
17-42911017-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911017G>C , CM000679.2:g.42911017G>C | GRCh38 |
| NC_000017.10:g.41063034G>C , CM000679.1:g.41063034G>C | GRCh37 |
| NC_000017.9:g.38316560G>C | NCBI36 |
| NG_011808.1:g.15220G>C , LRG_147:g.15220G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.665G>C MANE Select | ENSP00000253801.1:p.Gly222Ala | |
| ENST00000253801.6:c.665G>C | ENSP00000253801.1:p.Gly222Ala | |
| ENST00000585489.1:c.*57G>C | ENSP00000466202.1:n.*57G>C | |
| ENST00000592383.5:c.*57G>C | ENSP00000465958.1:n.*57G>C | |
| NM_000151.3:c.665G>C | NP_000142.2:p.Gly222Ala | |
| NM_001270397.1:c.*57G>C | NP_001257326.1:n.*57G>C | |
| NM_000151.4:c.665G>C MANE Select | NP_000142.2:p.Gly222Ala | |
| NM_001270397.2:c.*57G>C | NP_001257326.1:n.*57G>C |