Linked Data
ClinVar Variation Id:
2465125
ClinVar RCV Id:
RCV003185465
dbSNP Id:
rs758745364
ExAC:
1:24194417 C / G
gnomAD v2:
1-24194417-C-G
gnomAD v3:
1-23867927-C-G
gnomAD v4:
1-23867927-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867927C>G , CM000663.2:g.23867927C>G | GRCh38 |
| NC_000001.10:g.24194417C>G , CM000663.1:g.24194417C>G | GRCh37 |
| NC_000001.9:g.24067004C>G | NCBI36 |
| NG_013346.1:g.5443G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.360G>C MANE Select | ENSP00000363603.3:p.Trp120Cys | |
| ENST00000374479.3:c.360G>C | ENSP00000363603.3:p.Trp120Cys | |
| NM_000147.4:c.360G>C | NP_000138.2:p.Trp120Cys | |
| XM_005245821.1:c.-190G>C | XP_005245878.1:n.-190G>C | |
| XM_005245821.3:c.-190G>C | XP_005245878.1:n.-190G>C | |
| NM_000147.5:c.360G>C MANE Select | NP_000138.2:p.Trp120Cys | |
| NR_174379.1:n.364G>C | ||
| NR_174380.1:n.364G>C | ||
| NR_174381.1:n.364G>C | ||
| NR_174382.1:n.364G>C |