Linked Data
ClinVar Variation Id:
2432524
ClinVar RCV Id:
RCV003135613
dbSNP Id:
rs1289314405
gnomAD v2:
7-27239564-C-T
gnomAD v3:
7-27199945-C-T
gnomAD v4:
7-27199945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199945C>T , CM000669.2:g.27199945C>T | GRCh38 |
| NC_000007.13:g.27239564C>T , CM000669.1:g.27239564C>T | GRCh37 |
| NC_000007.12:g.27206089C>T | NCBI36 |
| NG_008181.1:g.5162G>A | |
| NG_008181.2:g.5162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649031.1:c.133G>A MANE Select | ENSP00000497112.1:p.Ala45Thr | |
| ENST00000222753.5:c.133G>A | ENSP00000222753.4:p.Ala45Thr | |
| NM_000522.4:c.133G>A | NP_000513.2:p.Ala45Thr | |
| XM_011515344.1:c.133G>A | XP_011513646.1:p.Ala45Thr | |
| NM_000522.5:c.133G>A MANE Select | NP_000513.2:p.Ala45Thr |