Linked Data
ClinVar Variation Id:
220
ClinVar RCV Id:
RCV000000244
dbSNP Id:
rs121964905
gnomAD v4:
4-177433250-C-T
PubMed:
PMID:1722323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177433250C>T , CM000666.2:g.177433250C>T | GRCh38 |
| NC_000004.11:g.178354404C>T , CM000666.1:g.178354404C>T | GRCh37 |
| NC_000004.10:g.178591398C>T | NCBI36 |
| NG_011845.2:g.14254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.904G>A MANE Select | ENSP00000264595.2:p.Gly302Arg | |
| ENST00000264595.6:c.904G>A | ENSP00000264595.2:p.Gly302Arg | |
| NM_000027.3:c.904G>A | NP_000018.2:p.Gly302Arg | |
| NM_001171988.1:c.874G>A | NP_001165459.1:p.Gly292Arg | |
| NR_033655.1:n.956G>A | ||
| XR_001741155.2:n.976G>A | ||
| NM_000027.4:c.904G>A MANE Select | NP_000018.2:p.Gly302Arg | |
| NM_001171988.2:c.874G>A | NP_001165459.1:p.Gly292Arg | |
| NR_033655.2:n.890G>A |