Linked Data
ClinVar Variation Id:
2756078
ClinVar RCV Id:
RCV003524572
MyVariant Identifiers:
chr1:g.235826357G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235663057G>C , CM000663.2:g.235663057G>C | GRCh38 |
| NC_000001.10:g.235826357G>C , CM000663.1:g.235826357G>C | GRCh37 |
| NC_000001.9:g.233892980G>C | NCBI36 |
| NG_007397.1:g.225584C>G , LRG_143:g.225584C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.3108C>G | ||
| ENST00000697178.1:c.*7275C>G | ENSP00000513163.1:n.*7275C>G | |
| ENST00000697235.1:c.1839C>G | ENSP00000513202.1:p.Gly613= | |
| ENST00000697236.1:c.4753C>G | ENSP00000513203.1:n.4753C>G | |
| ENST00000697237.1:c.2000C>G | ||
| ENST00000697238.1:n.443C>G | ||
| ENST00000697239.1:n.683C>G | ||
| ENST00000697240.1:c.3356C>G | ENSP00000513205.1:n.3356C>G | |
| ENST00000389793.7:c.11289C>G MANE Select | ENSP00000374443.2:p.Gly3763= | |
| ENST00000389793.6:c.11289C>G | ENSP00000374443.2:p.Gly3763= | |
| ENST00000389794.7:c.*6713C>G | ENSP00000374444.4:n.*6713C>G | |
| ENST00000473037.5:n.6279C>G | ||
| NM_000081.3:c.11289C>G , LRG_143t1:c.11289C>G | NP_000072.2:p.Gly3763= | |
| NM_001301365.1:c.11289C>G , LRG_143t2:c.11289C>G | NP_001288294.1:p.Gly3763= | |
| XM_011544031.1:c.11451C>G | XP_011542333.1:p.Gly3817= | |
| XM_011544032.1:c.11451C>G | XP_011542334.1:p.Gly3817= | |
| XM_011544033.1:c.11451C>G | XP_011542335.1:p.Gly3817= | |
| XM_011544034.1:c.11313C>G | XP_011542336.1:p.Gly3771= | |
| XM_011544036.1:c.9114C>G | XP_011542338.1:p.Gly3038= | |
| XM_011544033.2:c.11451C>G | XP_011542335.1:p.Gly3817= | |
| XM_011544036.2:c.9114C>G | XP_011542338.1:p.Gly3038= | |
| XM_017000150.1:c.11220C>G | XP_016855639.1:p.Gly3740= | |
| NM_000081.4:c.11289C>G MANE Select | NP_000072.2:p.Gly3763= |