Linked Data
ClinVar Variation Id:
1411
dbSNP Id:
rs137853118
ExAC:
3:172737276 C / T
gnomAD v2:
3-172737276-C-T
gnomAD v3:
3-173019486-C-T
gnomAD v4:
3-173019486-C-T
PubMed:
PMID:17847006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173019486C>T , CM000665.2:g.173019486C>T | GRCh38 |
| NC_000003.11:g.172737276C>T , CM000665.1:g.172737276C>T | GRCh37 |
| NC_000003.10:g.174219970C>T | NCBI36 |
| NG_021422.1:g.126783G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351008.4:c.848G>A MANE Select | ENSP00000341765.3:p.Arg283Gln | |
| ENST00000351008.3:c.848G>A | ENSP00000341765.3:p.Arg283Gln | |
| NM_031955.5:c.848G>A | NP_114161.3:p.Arg283Gln | |
| XM_006713778.2:c.848G>A | XP_006713841.1:p.Arg283Gln | |
| XM_011513222.1:c.848G>A | XP_011511524.1:p.Arg283Gln | |
| XM_006713778.3:c.848G>A | XP_006713841.1:p.Arg283Gln | |
| XM_017007308.2:c.848G>A | XP_016862797.1:p.Arg283Gln | |
| NM_031955.6:c.848G>A MANE Select | NP_114161.3:p.Arg283Gln |