Linked Data
ClinVar Variation Id:
16981
ClinVar RCV Id:
RCV000018502
dbSNP Id:
rs121917827
gnomAD v4:
13-20143062-C-T
PubMed:
PMID:15286166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20143062C>T , CM000675.2:g.20143062C>T | GRCh38 |
| NC_000013.10:g.20717201C>T , CM000675.1:g.20717201C>T | GRCh37 |
| NC_000013.9:g.19615201C>T | NCBI36 |
| NG_016399.1:g.22983G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241125.4:c.227G>A MANE Select | ENSP00000241125.3:p.Arg76His | |
| ENST00000241125.3:c.227G>A | ENSP00000241125.3:p.Arg76His | |
| NM_021954.3:c.227G>A | NP_068773.2:p.Arg76His | |
| XM_005266353.1:c.227G>A | XP_005266410.1:p.Arg76His | |
| XM_011535048.1:c.227G>A | XP_011533350.1:p.Arg76His | |
| XM_011535048.2:c.227G>A | XP_011533350.1:p.Arg76His | |
| NM_021954.4:c.227G>A MANE Select | NP_068773.2:p.Arg76His |