Linked Data
ClinVar Variation Id:
356488
ClinVar RCV Id:
RCV000299489
dbSNP Id:
rs886061343
gnomAD v3:
6-35805810-C-A
gnomAD v4:
6-35805810-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805810C>A , CM000668.2:g.35805810C>A | GRCh38 |
| NC_000006.11:g.35773587C>A , CM000668.1:g.35773587C>A | GRCh37 |
| NC_000006.10:g.35881565C>A | NCBI36 |
| NG_012184.1:g.5517C>A | |
| NG_012184.2:g.5517C>A | |
| NG_012184.3:g.13605C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.140C>A MANE Select | ENSP00000353346.1:p.Pro47His | |
| ENST00000651132.1:c.140C>A | ENSP00000498322.1:p.Pro47His | |
| ENST00000651676.1:c.140C>A | ENSP00000498699.1:p.Pro47His | |
| ENST00000651994.1:c.140C>A | ENSP00000498310.1:p.Pro47His | |
| ENST00000360215.2:c.140C>A | ENSP00000353346.1:p.Pro47His | |
| NM_182548.3:c.140C>A | NP_872354.1:p.Pro47His | |
| XM_011514403.1:c.140C>A | XP_011512705.1:p.Pro47His | |
| NM_182548.4:c.140C>A MANE Select | NP_872354.1:p.Pro47His |