Linked Data
ClinVar Variation Id:
2067058
ClinVar RCV Id:
RCV002943754
dbSNP Id:
rs1366927682
gnomAD v2:
12-52913921-C-T
gnomAD v3:
12-52520137-C-T
gnomAD v4:
12-52520137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520137C>T , CM000674.2:g.52520137C>T | GRCh38 |
| NC_000012.11:g.52913921C>T , CM000674.1:g.52913921C>T | GRCh37 |
| NC_000012.10:g.51200188C>T | NCBI36 |
| NG_008297.1:g.5323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.160G>A MANE Select | ENSP00000252242.4:p.Ala54Thr | |
| ENST00000252242.8:c.160G>A | ENSP00000252242.4:p.Ala54Thr | |
| ENST00000546577.1:c.160G>A | ENSP00000449651.1:p.Ala54Thr | |
| ENST00000549420.1:c.43+117G>A | ENSP00000447209.1:n.43+117G>A | |
| ENST00000551275.1:c.160G>A | ENSP00000448041.1:p.Ala54Thr | |
| ENST00000552629.5:n.258G>A | ||
| NM_000424.3:c.160G>A | NP_000415.2:p.Ala54Thr | |
| NM_000424.4:c.160G>A MANE Select | NP_000415.2:p.Ala54Thr |