Linked Data
ClinVar Variation Id:
1241
ClinVar RCV Id:
RCV000001300
dbSNP Id:
rs121908281
PubMed:
PMID:15028672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3770767C>G , CM000681.2:g.3770767C>G | GRCh38 |
| NC_000019.9:g.3770765C>G , CM000681.1:g.3770765C>G | GRCh37 |
| NC_000019.8:g.3721765C>G | NCBI36 |
| NG_011565.1:g.6455G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555633.3:c.409G>C MANE Select | ENSP00000450456.3:p.Gly137Arg | |
| ENST00000555633.2:c.409G>C | ENSP00000450456.2:p.Gly137Arg | |
| ENST00000555978.5:c.409G>C | ENSP00000450687.2:p.Gly137Arg | |
| NM_032753.3:c.409G>C | NP_116142.1:p.Gly137Arg | |
| XM_005259662.1:c.547G>C | XP_005259719.1:p.Gly183Arg | |
| NM_001319074.1:c.547G>C | NP_001306003.1:p.Gly183Arg | |
| NM_001319074.4:c.409G>C MANE Select | NP_001306003.2:p.Gly137Arg | |
| NM_032753.4:c.409G>C | NP_116142.1:p.Gly137Arg |