Linked Data
ClinVar Variation Id:
2717156
ClinVar RCV Id:
RCV003499181
dbSNP Id:
rs1241721586
gnomAD v4:
17-72124053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124053C>T , CM000679.2:g.72124053C>T | GRCh38 |
| NC_000017.10:g.70120194C>T , CM000679.1:g.70120194C>T | GRCh37 |
| NC_000017.9:g.67631789C>T | NCBI36 |
| NG_012490.1:g.8034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1196C>T MANE Select | ENSP00000245479.2:p.Thr399Met | |
| ENST00000245479.2:c.1196C>T | ENSP00000245479.2:p.Thr399Met | |
| NM_000346.3:c.1196C>T | NP_000337.1:p.Thr399Met | |
| NM_000346.4:c.1196C>T MANE Select | NP_000337.1:p.Thr399Met |