Linked Data
ClinVar Variation Id:
578513
ClinVar RCV Id:
RCV002533626
dbSNP Id:
rs199822819
gnomAD v4:
1-241512001-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512001G>T , CM000663.2:g.241512001G>T | GRCh38 |
| NC_000001.10:g.241675301G>T , CM000663.1:g.241675301G>T | GRCh37 |
| NC_000001.9:g.239741924G>T | NCBI36 |
| NG_012338.1:g.12754C>A , LRG_504:g.12754C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.1024C>A | ||
| ENST00000682162.1:c.550C>A | ENSP00000508203.1:n.550C>A | |
| ENST00000682567.1:n.598C>A | ||
| ENST00000683521.1:c.521C>A | ENSP00000506864.1:p.Pro174His | |
| ENST00000684483.1:c.521C>A | ENSP00000507894.1:p.Pro174His | |
| ENST00000366560.4:c.521C>A MANE Select | ENSP00000355518.4:p.Pro174His | |
| ENST00000366560.3:c.521C>A | ENSP00000355518.3:p.Pro174His | |
| ENST00000497042.1:n.217C>A | ||
| NM_000143.3:c.521C>A , LRG_504t1:c.521C>A | NP_000134.2:p.Pro174His | |
| XM_011544132.1:c.293C>A | XP_011542434.1:p.Pro98His | |
| XM_011544132.2:c.293C>A | XP_011542434.1:p.Pro98His | |
| NM_000143.4:c.521C>A MANE Select | NP_000134.2:p.Pro174His |