Linked Data
ClinVar Variation Id:
10580
ClinVar RCV Id:
RCV000011326
dbSNP Id:
rs137852234
PubMed:
PMID:2743975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139541127A>G , CM000685.2:g.139541127A>G | GRCh38 |
| NC_000023.10:g.138623286A>G , CM000685.1:g.138623286A>G | GRCh37 |
| NC_000023.9:g.138450952A>G | NCBI36 |
| NG_007994.1:g.15392A>G , LRG_556:g.15392A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.329A>G MANE Select | ENSP00000218099.2:p.Asp110Gly | |
| ENST00000218099.6:c.329A>G | ENSP00000218099.2:p.Asp110Gly | |
| ENST00000394090.2:c.277+3741A>G | ENSP00000377650.2:n.277+3741A>G | |
| ENST00000479617.2:n.282A>G | ||
| NM_000133.3:c.329A>G , LRG_556t1:c.329A>G | NP_000124.1:p.Asp110Gly | |
| NM_001313913.1:c.277+3741A>G | NP_001300842.1:n.277+3741A>G | |
| XM_005262397.3:c.329A>G | XP_005262454.1:p.Asp110Gly | |
| XM_005262397.4:c.329A>G | XP_005262454.1:p.Asp110Gly | |
| NM_000133.4:c.329A>G MANE Select | NP_000124.1:p.Asp110Gly | |
| NM_001313913.2:c.277+3741A>G | NP_001300842.1:n.277+3741A>G |