Linked Data
ClinVar Variation Id:
2922
ClinVar RCV Id:
RCV000003056
dbSNP Id:
rs121917846
PubMed:
PMID:12692552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134621002C>T , CM000667.2:g.134621002C>T | GRCh38 |
| NC_000005.9:g.133956692C>T , CM000667.1:g.133956692C>T | GRCh37 |
| NC_000005.8:g.133984591C>T | NCBI36 |
| NG_017002.1:g.16842G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402673.7:c.109G>A MANE Select | ENSP00000385432.2:p.Gly37Arg | |
| ENST00000402673.6:c.109G>A | ENSP00000385432.2:p.Gly37Arg | |
| ENST00000439578.5:c.109G>A | ENSP00000404997.1:p.Gly37Arg | |
| ENST00000502286.1:c.109G>A | ENSP00000423005.1:p.Gly37Arg | |
| ENST00000503318.5:c.109G>A | ENSP00000425367.1:p.Gly37Arg | |
| ENST00000505758.5:c.109G>A | ENSP00000425466.1:p.Gly37Arg | |
| ENST00000507419.5:c.-217-1G>A | ENSP00000425339.1:n.-217-1G>A | |
| NM_001033503.2:c.109G>A | NP_001028675.1:p.Gly37Arg | |
| NM_016103.3:c.109G>A | NP_057187.1:p.Gly37Arg | |
| NM_016103.4:c.109G>A MANE Select | NP_057187.1:p.Gly37Arg | |
| NM_001033503.3:c.109G>A | NP_001028675.1:p.Gly37Arg |