Linked Data
ClinVar Variation Id:
1055484
ClinVar RCV Id:
RCV001364160
MyVariant Identifiers:
chr1:g.235827881C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664581C>A , CM000663.2:g.235664581C>A | GRCh38 |
| NC_000001.10:g.235827881C>A , CM000663.1:g.235827881C>A | GRCh37 |
| NC_000001.9:g.233894504C>A | NCBI36 |
| NG_007397.1:g.224060G>T , LRG_143:g.224060G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2489G>T | ||
| ENST00000697178.1:c.*7065G>T | ENSP00000513163.1:n.*7065G>T | |
| ENST00000697235.1:c.1629G>T | ENSP00000513202.1:p.Gly543= | |
| ENST00000697236.1:c.4543G>T | ENSP00000513203.1:n.4543G>T | |
| ENST00000697237.1:c.1790G>T | ||
| ENST00000697238.1:n.233G>T | ||
| ENST00000697239.1:n.473G>T | ||
| ENST00000697240.1:c.3173-27G>T | ENSP00000513205.1:n.3173-27G>T | |
| ENST00000389793.7:c.11079G>T MANE Select | ENSP00000374443.2:p.Gly3693= | |
| ENST00000389793.6:c.11079G>T | ENSP00000374443.2:p.Gly3693= | |
| ENST00000389794.7:c.*6503G>T | ENSP00000374444.4:n.*6503G>T | |
| ENST00000473037.5:n.6069G>T | ||
| NM_000081.3:c.11079G>T , LRG_143t1:c.11079G>T | NP_000072.2:p.Gly3693= | |
| NM_001301365.1:c.11079G>T , LRG_143t2:c.11079G>T | NP_001288294.1:p.Gly3693= | |
| XM_011544031.1:c.11241G>T | XP_011542333.1:p.Gly3747= | |
| XM_011544032.1:c.11241G>T | XP_011542334.1:p.Gly3747= | |
| XM_011544033.1:c.11241G>T | XP_011542335.1:p.Gly3747= | |
| XM_011544034.1:c.11103G>T | XP_011542336.1:p.Gly3701= | |
| XM_011544036.1:c.8904G>T | XP_011542338.1:p.Gly2968= | |
| XM_011544033.2:c.11241G>T | XP_011542335.1:p.Gly3747= | |
| XM_011544036.2:c.8904G>T | XP_011542338.1:p.Gly2968= | |
| XM_017000150.1:c.11010G>T | XP_016855639.1:p.Gly3670= | |
| NM_000081.4:c.11079G>T MANE Select | NP_000072.2:p.Gly3693= |