Linked Data
ClinVar Variation Id:
1670502
ClinVar RCV Id:
RCV002203793
dbSNP Id:
rs759155798
ExAC:
12:102153901 G / A
gnomAD v2:
12-102153901-G-A
gnomAD v4:
12-101760123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760123G>A , CM000674.2:g.101760123G>A | GRCh38 |
| NC_000012.11:g.102153901G>A , CM000674.1:g.102153901G>A | GRCh37 |
| NC_000012.10:g.100678032G>A | NCBI36 |
| NG_021243.1:g.75745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3156C>T MANE Select | ENSP00000299314.7:p.His1052= | |
| ENST00000299314.11:c.3156C>T | ENSP00000299314.7:p.His1052= | |
| ENST00000549194.1:n.22C>T | ||
| NM_024312.4:c.3156C>T | NP_077288.2:p.His1052= | |
| XM_006719593.2:c.3156C>T | XP_006719656.1:p.His1052= | |
| XM_011538731.1:c.3075C>T | XP_011537033.1:p.His1025= | |
| XM_006719593.3:c.3156C>T | XP_006719656.1:p.His1052= | |
| XM_011538731.2:c.3075C>T | XP_011537033.1:p.His1025= | |
| XM_017019961.1:c.2940C>T | XP_016875450.1:p.His980= | |
| XM_017019962.2:c.1929C>T | XP_016875451.1:p.His643= | |
| NM_024312.5:c.3156C>T MANE Select | NP_077288.2:p.His1052= |