Linked Data
ClinVar Variation Id:
14986
dbSNP Id:
rs281864892
ExAC:
11:5275715 C / T
gnomAD v2:
11-5275715-C-T
gnomAD v3:
11-5254485-C-T
gnomAD v4:
11-5254485-C-T
PubMed:
PMID:2459083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254485C>T , CM000673.2:g.5254485C>T | GRCh38 |
| NC_000011.9:g.5275715C>T , CM000673.1:g.5275715C>T | GRCh37 |
| NC_000011.8:g.5232291C>T | NCBI36 |
| NG_000007.3:g.43131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.122G>A MANE Select | ENSP00000338082.4:p.Arg41Lys | |
| ENST00000380252.6:c.-44G>A | ENSP00000369602.2:n.-44G>A | |
| ENST00000380259.7:c.1668G>A | ENSP00000369609.3:n.1668G>A | |
| ENST00000642908.1:c.122G>A | ENSP00000495346.1:p.Arg41Lys | |
| ENST00000647543.1:c.122G>A | ENSP00000496470.1:p.Arg41Lys | |
| ENST00000336906.4:c.122G>A | ENSP00000338082.4:p.Arg41Lys | |
| ENST00000380252.5:c.92G>A | ENSP00000369602.1:p.Arg31Lys | |
| ENST00000380259.6:c.122G>A | ENSP00000369609.2:p.Arg41Lys | |
| ENST00000444587.1:c.84G>A | ENSP00000488218.1:p.Glu28= | |
| ENST00000620888.4:c.122G>A | ENSP00000479637.1:p.Arg41Lys | |
| ENST00000624109.1:c.233C>T | ENSP00000485458.1:p.Pro78Leu | |
| NM_000184.2:c.122G>A | NP_000175.1:p.Arg41Lys | |
| NM_000184.3:c.122G>A MANE Select | NP_000175.1:p.Arg41Lys |