Linked Data
ClinVar Variation Id:
2805655
ClinVar RCV Id:
RCV003745955
dbSNP Id:
rs535472885
gnomAD v2:
19-50331716-G-C
gnomAD v4:
19-49828459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49828459G>C , CM000681.2:g.49828459G>C | GRCh38 |
| NC_000019.9:g.50331716G>C , CM000681.1:g.50331716G>C | GRCh37 |
| NC_000019.8:g.55023528G>C | NCBI36 |
| NG_017091.1:g.15181G>C , LRG_368:g.15181G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.316G>C | ENSP00000470692.3:p.Gly106Arg | |
| ENST00000312865.10:c.316G>C MANE Select | ENSP00000326767.5:p.Gly106Arg | |
| ENST00000538643.5:c.181-2052G>C | ENSP00000437496.1:n.181-2052G>C | |
| ENST00000595185.5:c.316G>C | ENSP00000470027.1:p.Gly106Arg | |
| ENST00000612791.4:c.316G>C | ENSP00000479851.1:p.Gly106Arg | |
| ENST00000612854.4:c.316G>C | ENSP00000482155.1:p.Gly106Arg | |
| ENST00000617849.4:c.158-2280G>C | ENSP00000484882.1:n.158-2280G>C | |
| ENST00000618715.4:c.158-2279G>C | ENSP00000480731.1:n.158-2279G>C | |
| ENST00000620467.4:c.316G>C | ENSP00000482659.1:p.Gly106Arg | |
| ENST00000622402.4:c.146-7368G>C | ENSP00000478074.1:n.146-7368G>C | |
| NM_030973.3:c.316G>C , LRG_368t1:c.316G>C | NP_112235.2:p.Gly106Arg | |
| XM_011527353.1:c.316G>C | XP_011525655.1:p.Gly106Arg | |
| NM_001378355.1:c.316G>C | NP_001365284.1:p.Gly106Arg | |
| NM_030973.4:c.316G>C MANE Select | NP_112235.2:p.Gly106Arg |