Linked Data
ClinVar Variation Id:
1929251
ClinVar RCV Id:
RCV002642331
dbSNP Id:
rs752218690
gnomAD v3:
5-174729280-C-T
gnomAD v4:
5-174729280-C-T
COSMIC:
COSM3853796
MyVariant Identifiers:
chr5:g.174156283C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729280C>T , CM000667.2:g.174729280C>T | GRCh38 |
| NC_000005.9:g.174156283C>T , CM000667.1:g.174156283C>T | GRCh37 |
| NC_000005.8:g.174088889C>T | NCBI36 |
| NG_008124.1:g.9709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.501C>T MANE Select | ENSP00000239243.5:p.Leu167= | |
| ENST00000239243.6:c.501C>T | ENSP00000239243.5:p.Leu167= | |
| ENST00000507785.2:c.*125C>T | ENSP00000427425.1:n.*125C>T | |
| NM_002449.4:c.501C>T | NP_002440.2:p.Leu167= | |
| NM_001363626.1:c.*125C>T | NP_001350555.1:n.*125C>T | |
| NM_002449.5:c.501C>T MANE Select | NP_002440.2:p.Leu167= | |
| NM_001363626.2:c.*125C>T | NP_001350555.1:n.*125C>T |