Linked Data
ClinVar Variation Id:
2203668
ClinVar RCV Id:
RCV002664371
dbSNP Id:
rs768031892
ExAC:
5:95751821 C / T
gnomAD v2:
5-95751821-C-T
gnomAD v3:
5-96416117-C-T
gnomAD v4:
5-96416117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416117C>T , CM000667.2:g.96416117C>T | GRCh38 |
| NC_000005.9:g.95751821C>T , CM000667.1:g.95751821C>T | GRCh37 |
| NC_000005.8:g.95777577C>T | NCBI36 |
| NG_021161.1:g.22165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.625G>A MANE Select | ENSP00000308024.2:p.Gly209Arg | |
| ENST00000311106.7:c.625G>A | ENSP00000308024.2:p.Gly209Arg | |
| ENST00000508626.5:c.484G>A | ENSP00000421600.1:p.Gly162Arg | |
| NM_000439.4:c.625G>A | NP_000430.3:p.Gly209Arg | |
| NM_001177875.1:c.484G>A | NP_001171346.1:p.Gly162Arg | |
| NR_130776.1:n.354+36465C>T | ||
| NM_000439.5:c.625G>A MANE Select | NP_000430.3:p.Gly209Arg | |
| NM_001177875.2:c.484G>A | NP_001171346.1:p.Gly162Arg |