Linked Data
ClinVar Variation Id:
8061
ClinVar RCV Id:
RCV000008527
dbSNP Id:
rs104893832
ExAC:
3:13896274 C / T
gnomAD v2:
3-13896274-C-T
gnomAD v4:
3-13854777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854777C>T , CM000665.2:g.13854777C>T | GRCh38 |
| NC_000003.11:g.13896274C>T , CM000665.1:g.13896274C>T | GRCh37 |
| NC_000003.10:g.13871275C>T | NCBI36 |
| NG_008088.1:g.30345G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285018.5:c.325G>A MANE Select | ENSP00000285018.4:p.Ala109Thr | |
| ENST00000285018.4:c.325G>A | ENSP00000285018.4:p.Ala109Thr | |
| NM_004625.3:c.325G>A | NP_004616.2:p.Ala109Thr | |
| XM_011534090.1:c.124G>A | XP_011532392.1:p.Ala42Thr | |
| XM_011534091.1:c.124G>A | XP_011532393.1:p.Ala42Thr | |
| XM_011534091.2:c.124G>A | XP_011532393.1:p.Ala42Thr | |
| NM_004625.4:c.325G>A MANE Select | NP_004616.2:p.Ala109Thr |