Linked Data
ClinVar Variation Id:
38883
ClinVar RCV Id:
RCV000032132
dbSNP Id:
rs202247818
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136256586G>A , CM000665.2:g.136256586G>A | GRCh38 |
| NC_000003.11:g.135975428G>A , CM000665.1:g.135975428G>A | GRCh37 |
| NC_000003.10:g.137458118G>A | NCBI36 |
| NG_008939.1:g.11262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.335G>A MANE Select | ENSP00000251654.4:p.Gly112Asp | |
| ENST00000251654.8:c.335G>A | ENSP00000251654.4:p.Gly112Asp | |
| ENST00000459873.1:c.86G>A | ENSP00000419293.1:p.Gly29Asp | |
| ENST00000462542.5:c.202G>A | ||
| ENST00000462637.5:c.303+611G>A | ENSP00000420391.1:n.303+611G>A | |
| ENST00000465176.5:n.297G>A | ||
| ENST00000465423.5:c.422G>A | ENSP00000419263.1:p.Gly141Asp | |
| ENST00000466072.5:c.335G>A | ENSP00000420158.1:p.Gly112Asp | |
| ENST00000468777.5:c.335G>A | ENSP00000419129.1:p.Gly112Asp | |
| ENST00000469217.5:c.335G>A | ENSP00000419027.1:p.Gly112Asp | |
| ENST00000471595.5:c.335G>A | ENSP00000417549.1:p.Gly112Asp | |
| ENST00000474833.5:n.168+6028G>A | ||
| ENST00000475214.5:n.249G>A | ||
| ENST00000478469.5:c.335G>A | ENSP00000420759.1:p.Gly112Asp | |
| ENST00000482086.5:c.94-5378G>A | ENSP00000417253.1:n.94-5378G>A | |
| ENST00000483687.5:c.335G>A | ENSP00000420639.1:p.Gly112Asp | |
| ENST00000484181.5:c.335G>A | ENSP00000417937.1:p.Gly112Asp | |
| ENST00000490504.5:c.335G>A | ENSP00000418307.1:p.Gly112Asp | |
| ENST00000494742.5:c.86G>A | ENSP00000418020.1:p.Gly29Asp | |
| NM_000532.4:c.335G>A | NP_000523.2:p.Gly112Asp | |
| NM_001178014.1:c.335G>A | NP_001171485.1:p.Gly112Asp | |
| XM_011512873.1:c.335G>A | XP_011511175.1:p.Gly112Asp | |
| XM_011512873.2:c.335G>A | XP_011511175.1:p.Gly112Asp | |
| NM_000532.5:c.335G>A MANE Select | NP_000523.2:p.Gly112Asp | |
| NM_001178014.2:c.335G>A | NP_001171485.1:p.Gly112Asp |