Linked Data
ClinVar Variation Id:
2041486
ClinVar RCV Id:
RCV002903006
dbSNP Id:
rs61747601
gnomAD v4:
14-24259121-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259121G>T , CM000676.2:g.24259121G>T | GRCh38 |
| NC_000014.8:g.24728327G>T , CM000676.1:g.24728327G>T | GRCh37 |
| NC_000014.7:g.23798167G>T | NCBI36 |
| NG_007150.1:g.9046C>A | |
| NG_007150.2:g.9046C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1113C>A MANE Select | ENSP00000206765.6:p.Ser371= | |
| ENST00000206765.10:c.1113C>A | ENSP00000206765.6:p.Ser371= | |
| ENST00000544573.5:c.-28-733C>A | ENSP00000439446.1:n.-28-733C>A | |
| ENST00000559136.1:c.186C>A | ENSP00000453337.1:p.Ser62= | |
| NM_000359.2:c.1113C>A | NP_000350.1:p.Ser371= | |
| NM_000359.3:c.1113C>A MANE Select | NP_000350.1:p.Ser371= |