Linked Data
ClinVar Variation Id:
12481
ClinVar RCV Id:
RCV000013299
dbSNP Id:
rs121918719
gnomAD v2:
14-24730981-C-T
gnomAD v3:
14-24261775-C-T
gnomAD v4:
14-24261775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261775C>T , CM000676.2:g.24261775C>T | GRCh38 |
| NC_000014.8:g.24730981C>T , CM000676.1:g.24730981C>T | GRCh37 |
| NC_000014.7:g.23800821C>T | NCBI36 |
| NG_007150.1:g.6392G>A | |
| NG_007150.2:g.6392G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.428G>A MANE Select | ENSP00000206765.6:p.Arg143His | |
| ENST00000206765.10:c.428G>A | ENSP00000206765.6:p.Arg143His | |
| ENST00000544573.5:c.-29+352G>A | ENSP00000439446.1:n.-29+352G>A | |
| NM_000359.2:c.428G>A | NP_000350.1:p.Arg143His | |
| NM_000359.3:c.428G>A MANE Select | NP_000350.1:p.Arg143His |