Linked Data
ClinVar Variation Id:
39501
ClinVar RCV Id:
RCV000032697
dbSNP Id:
rs397514514
PubMed:
PMID:23176821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107947388A>G , CM000666.2:g.107947388A>G | GRCh38 |
| NC_000004.11:g.108868544A>G , CM000666.1:g.108868544A>G | GRCh37 |
| NC_000004.10:g.109087993A>G | NCBI36 |
| NG_007961.1:g.20828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.1139A>G MANE Select | ENSP00000333212.6:p.Glu380Gly | |
| ENST00000332884.10:c.1139A>G | ENSP00000333212.6:p.Glu380Gly | |
| ENST00000508453.1:c.512A>G | ENSP00000423667.1:p.Glu171Gly | |
| NM_183075.2:c.1139A>G | NP_898898.1:p.Glu380Gly | |
| XM_005262717.2:c.1193A>G | XP_005262774.1:p.Glu398Gly | |
| XM_005262720.2:c.503A>G | XP_005262777.1:p.Glu168Gly | |
| XR_001741783.1:n.156-36839T>C | ||
| XR_001741784.1:n.530+31332T>C | ||
| NM_183075.3:c.1139A>G MANE Select | NP_898898.1:p.Glu380Gly |