Linked Data
ClinVar Variation Id:
13613
ClinVar RCV Id:
RCV003556019
dbSNP Id:
rs104893764
ExAC:
3:87309232 C / T
gnomAD v2:
3-87309232-C-T
gnomAD v3:
3-87260082-C-T
gnomAD v4:
3-87260082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260082C>T , CM000665.2:g.87260082C>T | GRCh38 |
| NC_000003.11:g.87309232C>T , CM000665.1:g.87309232C>T | GRCh37 |
| NC_000003.10:g.87391922C>T | NCBI36 |
| NG_008225.2:g.21506G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.766G>A | ENSP00000342931.3:p.Glu256Lys | |
| ENST00000350375.7:c.688G>A MANE Select | ENSP00000263781.2:p.Glu230Lys | |
| ENST00000344265.7:c.766G>A | ENSP00000342931.3:p.Glu256Lys | |
| ENST00000350375.6:c.688G>A | ENSP00000263781.2:p.Glu230Lys | |
| ENST00000560656.1:c.462G>A | ENSP00000452610.1:p.Trp154Ter | |
| ENST00000561167.5:c.463G>A | ENSP00000454072.1:p.Glu155Lys | |
| NM_000306.3:c.688G>A | NP_000297.1:p.Glu230Lys | |
| NM_001122757.2:c.766G>A | NP_001116229.1:p.Glu256Lys | |
| NM_000306.4:c.688G>A MANE Select | NP_000297.1:p.Glu230Lys | |
| NM_001122757.3:c.766G>A | NP_001116229.1:p.Glu256Lys |