Linked Data
ClinVar Variation Id:
11872
ClinVar RCV Id:
RCV000012647
dbSNP Id:
rs121965077
gnomAD v4:
15-80181120-A-G
PubMed:
PMID:7757089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80181120A>G , CM000677.2:g.80181120A>G | GRCh38 |
| NC_000015.9:g.80473462A>G , CM000677.1:g.80473462A>G | GRCh37 |
| NC_000015.8:g.78260517A>G | NCBI36 |
| NG_012833.1:g.33122A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682012.1:n.1230A>G | ||
| ENST00000561421.6:c.1141A>G MANE Select | ENSP00000453347.2:p.Arg381Gly | |
| ENST00000646551.1:n.2755A>G | ||
| ENST00000261755.9:c.1141A>G | ENSP00000261755.5:p.Arg381Gly | |
| ENST00000407106.5:c.1141A>G | ENSP00000385080.1:p.Arg381Gly | |
| ENST00000539156.5:c.931A>G | ENSP00000454271.1:p.Arg311Gly | |
| ENST00000559217.1:n.358A>G | ||
| ENST00000561421.5:c.1141A>G | ENSP00000453347.1:p.Arg381Gly | |
| NM_000137.2:c.1141A>G | NP_000128.1:p.Arg381Gly | |
| XM_024449872.1:c.1141A>G | XP_024305640.1:p.Arg381Gly | |
| NM_000137.4:c.1141A>G MANE Select | NP_000128.1:p.Arg381Gly | |
| NM_001374377.1:c.1141A>G | NP_001361306.1:p.Arg381Gly | |
| NM_001374380.1:c.1141A>G | NP_001361309.1:p.Arg381Gly |