Linked Data
ClinVar Variation Id:
1579690
ClinVar RCV Id:
RCV002093362
dbSNP Id:
rs750284138
ExAC:
17:70120167 G / C
gnomAD v2:
17-70120167-G-C
gnomAD v3:
17-72124026-G-C
gnomAD v4:
17-72124026-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124026G>C , CM000679.2:g.72124026G>C | GRCh38 |
| NC_000017.10:g.70120167G>C , CM000679.1:g.70120167G>C | GRCh37 |
| NC_000017.9:g.67631762G>C | NCBI36 |
| NG_012490.1:g.8007G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1169G>C MANE Select | ENSP00000245479.2:p.Gly390Ala | |
| ENST00000245479.2:c.1169G>C | ENSP00000245479.2:p.Gly390Ala | |
| NM_000346.3:c.1169G>C | NP_000337.1:p.Gly390Ala | |
| NM_000346.4:c.1169G>C MANE Select | NP_000337.1:p.Gly390Ala |