Linked Data
ClinVar Variation Id:
205585
ClinVar RCV Id:
RCV000187570
dbSNP Id:
rs758371494
gnomAD v2:
19-1398962-C-G
gnomAD v4:
19-1398963-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398963C>G , CM000681.2:g.1398963C>G | GRCh38 |
| NC_000019.9:g.1398962C>G , CM000681.1:g.1398962C>G | GRCh37 |
| NC_000019.8:g.1349962C>G | NCBI36 |
| NG_009785.1:g.7591G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.523G>C MANE Select | ENSP00000252288.1:p.Gly175Arg | |
| ENST00000447102.8:c.523G>C | ENSP00000403536.2:p.Gly175Arg | |
| ENST00000591788.3:c.206G>C | ||
| ENST00000640164.1:n.356G>C | ||
| ENST00000640762.1:c.454G>C | ENSP00000492031.1:p.Gly152Arg | |
| ENST00000252288.6:c.523G>C | ENSP00000252288.1:p.Gly175Arg | |
| ENST00000447102.7:c.523G>C | ENSP00000403536.2:p.Gly175Arg | |
| ENST00000591788.2:c.208G>C | ENSP00000466341.2:p.Gly70Arg | |
| NM_000156.5:c.523G>C | NP_000147.1:p.Gly175Arg | |
| NM_138924.2:c.523G>C | NP_620279.1:p.Gly175Arg | |
| NM_000156.6:c.523G>C MANE Select | NP_000147.1:p.Gly175Arg | |
| NM_138924.3:c.523G>C | NP_620279.1:p.Gly175Arg |