Linked Data
ClinVar Variation Id:
56553
ClinVar RCV Id:
RCV000049966
dbSNP Id:
rs386833989
ExAC:
6:74320156 C / T
gnomAD v2:
6-74320156-C-T
gnomAD v4:
6-73610433-C-T
PubMed:
PMID:15172001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73610433C>T , CM000668.2:g.73610433C>T | GRCh38 |
| NC_000006.11:g.74320156C>T , CM000668.1:g.74320156C>T | GRCh37 |
| NC_000006.10:g.74376877C>T | NCBI36 |
| NG_008272.1:g.48582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1226G>A MANE Select | ENSP00000348019.5:p.Gly409Glu | |
| ENST00000355773.5:c.1226G>A | ENSP00000348019.5:p.Gly409Glu | |
| NM_012434.4:c.1226G>A | NP_036566.1:p.Gly409Glu | |
| XM_005248710.2:c.1175G>A | XP_005248767.1:p.Gly392Glu | |
| XM_005248711.1:c.1028G>A | XP_005248768.1:p.Gly343Glu | |
| XM_011535750.1:c.1111+4882G>A | XP_011534052.1:n.1111+4882G>A | |
| NM_012434.5:c.1226G>A MANE Select | NP_036566.1:p.Gly409Glu | |
| NM_001382629.1:c.995G>A | NP_001369558.1:p.Gly332Glu | |
| NM_001382630.1:c.1226G>A | NP_001369559.1:p.Gly409Glu | |
| NM_001382631.1:c.1247G>A | NP_001369560.1:p.Gly416Glu | |
| NM_001382632.1:c.1139G>A | NP_001369561.1:p.Gly380Glu | |
| NM_001382633.1:c.1226G>A | NP_001369562.1:p.Gly409Glu | |
| NM_001382634.1:c.1067G>A | NP_001369563.1:p.Gly356Glu | |
| NM_001382635.1:c.1223G>A | NP_001369564.1:p.Gly408Glu | |
| NM_001382636.1:c.908G>A | NP_001369565.1:p.Gly303Glu |