Linked Data
ClinVar Variation Id:
12214
ClinVar RCV Id:
RCV000012998
dbSNP Id:
rs121964888
PubMed:
PMID:9467595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083139C>G , CM000682.2:g.3083139C>G | GRCh38 |
| NC_000020.10:g.3063785C>G , CM000682.1:g.3063785C>G | GRCh37 |
| NC_000020.9:g.3011785C>G | NCBI36 |
| NG_008663.1:g.6586G>C , LRG_715:g.6586G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.160G>C MANE Select | ENSP00000369647.3:p.Gly54Arg | |
| NM_000490.4:c.160G>C , LRG_715t1:c.160G>C | NP_000481.2:p.Gly54Arg | |
| XM_011529267.1:c.160G>C | XP_011527569.1:p.Gly54Arg | |
| XM_011529267.2:c.160G>C | XP_011527569.1:p.Gly54Arg | |
| NM_000490.5:c.160G>C MANE Select | NP_000481.2:p.Gly54Arg |