Linked Data
ClinVar Variation Id:
370757
ClinVar RCV Id:
RCV000411323
dbSNP Id:
rs189768576
ExAC:
1:98293683 G / A
gnomAD v2:
1-98293683-G-A
gnomAD v3:
1-97828127-G-A
gnomAD v4:
1-97828127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97828127G>A , CM000663.2:g.97828127G>A | GRCh38 |
| NC_000001.10:g.98293683G>A , CM000663.1:g.98293683G>A | GRCh37 |
| NC_000001.9:g.98066271G>A | NCBI36 |
| NG_008807.2:g.97933C>T , LRG_722:g.97933C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.220C>T MANE Select | ENSP00000359211.3:p.Arg74Ter | |
| ENST00000306031.5:c.220C>T | ENSP00000307107.5:p.Arg74Ter | |
| ENST00000370192.7:c.220C>T | ENSP00000359211.3:p.Arg74Ter | |
| NM_000110.3:c.220C>T , LRG_722t1:c.220C>T | NP_000101.2:p.Arg74Ter | |
| NM_001160301.1:c.220C>T , LRG_722t2:c.220C>T | NP_001153773.1:p.Arg74Ter | |
| XM_005270562.3:c.220C>T | XP_005270619.2:p.Arg74Ter | |
| XM_006710397.2:c.220C>T | XP_006710460.1:p.Arg74Ter | |
| XM_006710397.3:c.220C>T | XP_006710460.1:p.Arg74Ter | |
| XM_017000507.1:c.109C>T | XP_016855996.1:p.Arg37Ter | |
| XM_017000508.2:c.-491C>T | XP_016855997.1:n.-491C>T | |
| XM_017000509.2:c.-389C>T | XP_016855998.1:n.-389C>T | |
| XM_017000510.1:c.-389C>T | XP_016855999.1:n.-389C>T | |
| XR_001737014.1:n.357C>T | ||
| NM_000110.4:c.220C>T MANE Select | NP_000101.2:p.Arg74Ter |