Linked Data
ClinVar Variation Id:
1916936
ClinVar RCV Id:
RCV002590808
dbSNP Id:
rs756946393
ExAC:
2:219745754 C / T
gnomAD v2:
2-219745754-C-T
gnomAD v4:
2-218881032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218881032C>T , CM000664.2:g.218881032C>T | GRCh38 |
| NC_000002.11:g.219745754C>T , CM000664.1:g.219745754C>T | GRCh37 |
| NC_000002.10:g.219453998C>T | NCBI36 |
| NG_012179.1:g.5500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.37C>T MANE Select | ENSP00000258411.3:p.Arg13Ter | |
| ENST00000258411.7:c.37C>T | ENSP00000258411.3:p.Arg13Ter | |
| NM_025216.2:c.37C>T | NP_079492.2:p.Arg13Ter | |
| XM_011511929.1:c.18-1129C>T | XP_011510231.1:n.18-1129C>T | |
| XM_011511930.1:c.37C>T | XP_011510232.1:p.Arg13Ter | |
| XM_011511929.2:c.18-1129C>T | XP_011510231.1:n.18-1129C>T | |
| NM_025216.3:c.37C>T MANE Select | NP_079492.2:p.Arg13Ter |