Linked Data
ClinVar Variation Id:
55951
ClinVar RCV Id:
RCV000049360
dbSNP Id:
rs386833432
gnomAD v4:
4-177434434-C-G
COSMIC:
COSM387509
PubMed:
PMID:11309371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177434434C>G , CM000666.2:g.177434434C>G | GRCh38 |
| NC_000004.11:g.178355588C>G , CM000666.1:g.178355588C>G | GRCh37 |
| NC_000004.10:g.178592582C>G | NCBI36 |
| NG_011845.2:g.13070G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.754G>C MANE Select | ENSP00000264595.2:p.Gly252Arg | |
| ENST00000264595.6:c.754G>C | ENSP00000264595.2:p.Gly252Arg | |
| ENST00000502310.5:c.325G>C | ENSP00000423798.1:p.Gly109Arg | |
| ENST00000506853.5:n.712G>C | ||
| NM_000027.3:c.754G>C | NP_000018.2:p.Gly252Arg | |
| NM_001171988.1:c.724G>C | NP_001165459.1:p.Gly242Arg | |
| NR_033655.1:n.806G>C | ||
| XM_006714123.2:c.*48G>C | XP_006714186.1:n.*48G>C | |
| XR_001741155.2:n.826G>C | ||
| NM_000027.4:c.754G>C MANE Select | NP_000018.2:p.Gly252Arg | |
| NM_001171988.2:c.724G>C | NP_001165459.1:p.Gly242Arg | |
| NR_033655.2:n.740G>C |