Linked Data
ClinVar Variation Id:
279910
dbSNP Id:
rs886041250
gnomAD v2:
14-24731030-G-A
gnomAD v3:
14-24261824-G-A
gnomAD v4:
14-24261824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261824G>A , CM000676.2:g.24261824G>A | GRCh38 |
| NC_000014.8:g.24731030G>A , CM000676.1:g.24731030G>A | GRCh37 |
| NC_000014.7:g.23800870G>A | NCBI36 |
| NG_007150.1:g.6343C>T | |
| NG_007150.2:g.6343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.379C>T MANE Select | ENSP00000206765.6:p.Arg127Ter | |
| ENST00000206765.10:c.379C>T | ENSP00000206765.6:p.Arg127Ter | |
| ENST00000544573.5:c.-29+303C>T | ENSP00000439446.1:n.-29+303C>T | |
| ENST00000558074.1:c.379C>T | ENSP00000453840.1:p.Arg127Ter | |
| NM_000359.2:c.379C>T | NP_000350.1:p.Arg127Ter | |
| NM_000359.3:c.379C>T MANE Select | NP_000350.1:p.Arg127Ter |