Linked Data
ClinVar Variation Id:
750365
ClinVar RCV Id:
RCV000927325
dbSNP Id:
rs1581616784
gnomAD v4:
5-151851546-C-G
COSMIC:
COSM420821
MyVariant Identifiers:
chr5:g.151231107C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851546C>G , CM000667.2:g.151851546C>G | GRCh38 |
| NC_000005.9:g.151231107C>G , CM000667.1:g.151231107C>G | GRCh37 |
| NC_000005.8:g.151211300C>G | NCBI36 |
| NG_011764.1:g.78291G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.756G>C MANE Select | ENSP00000274576.5:p.Leu252= | |
| ENST00000274576.8:c.756G>C | ENSP00000274576.4:p.Leu252= | |
| ENST00000455880.2:c.756G>C | ENSP00000411593.2:p.Leu252= | |
| ENST00000462581.6:c.*514G>C | ENSP00000430595.1:n.*514G>C | |
| ENST00000471351.2:n.1039G>C | ||
| NM_000171.3:c.756G>C | NP_000162.2:p.Leu252= | |
| NM_001146040.1:c.756G>C | NP_001139512.1:p.Leu252= | |
| NM_001292000.1:c.507G>C | NP_001278929.1:p.Leu169= | |
| XM_005268412.2:c.756G>C | XP_005268469.1:p.Leu252= | |
| NM_000171.4:c.756G>C MANE Select | NP_000162.2:p.Leu252= | |
| NM_001146040.2:c.756G>C | NP_001139512.1:p.Leu252= | |
| NM_001292000.2:c.507G>C | NP_001278929.1:p.Leu169= |