Linked Data
ClinVar Variation Id:
7535
ClinVar RCV Id:
RCV000007971
dbSNP Id:
rs104893889
PubMed:
PMID:17213838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44310443C>T , CM000667.2:g.44310443C>T | GRCh38 |
| NC_000005.9:g.44310545C>T , CM000667.1:g.44310545C>T | GRCh37 |
| NC_000005.8:g.44346302C>T | NCBI36 |
| NG_011446.1:g.83240G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.413G>A MANE Select | ENSP00000264664.4:p.Gly138Glu | |
| ENST00000264664.4:c.413G>A | ENSP00000264664.4:p.Gly138Glu | |
| NM_004465.1:c.413G>A | NP_004456.1:p.Gly138Glu | |
| XM_005248264.2:c.413G>A | XP_005248321.1:p.Gly138Glu | |
| XM_005248264.4:c.413G>A | XP_005248321.1:p.Gly138Glu | |
| NM_004465.2:c.413G>A MANE Select | NP_004456.1:p.Gly138Glu |