Linked Data
ClinVar Variation Id:
2794815
ClinVar RCV Id:
RCV003636309
MyVariant Identifiers:
chr1:g.235827773T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664473T>G , CM000663.2:g.235664473T>G | GRCh38 |
| NC_000001.10:g.235827773T>G , CM000663.1:g.235827773T>G | GRCh37 |
| NC_000001.9:g.233894396T>G | NCBI36 |
| NG_007397.1:g.224168A>C , LRG_143:g.224168A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2597A>C | ||
| ENST00000697178.1:c.*7173A>C | ENSP00000513163.1:n.*7173A>C | |
| ENST00000697235.1:c.1737A>C | ENSP00000513202.1:p.Gly579= | |
| ENST00000697236.1:c.4651A>C | ENSP00000513203.1:n.4651A>C | |
| ENST00000697237.1:c.1898A>C | ||
| ENST00000697238.1:n.341A>C | ||
| ENST00000697239.1:n.581A>C | ||
| ENST00000697240.1:c.3254A>C | ENSP00000513205.1:n.3254A>C | |
| ENST00000389793.7:c.11187A>C MANE Select | ENSP00000374443.2:p.Gly3729= | |
| ENST00000389793.6:c.11187A>C | ENSP00000374443.2:p.Gly3729= | |
| ENST00000389794.7:c.*6611A>C | ENSP00000374444.4:n.*6611A>C | |
| ENST00000473037.5:n.6177A>C | ||
| NM_000081.3:c.11187A>C , LRG_143t1:c.11187A>C | NP_000072.2:p.Gly3729= | |
| NM_001301365.1:c.11187A>C , LRG_143t2:c.11187A>C | NP_001288294.1:p.Gly3729= | |
| XM_011544031.1:c.11349A>C | XP_011542333.1:p.Gly3783= | |
| XM_011544032.1:c.11349A>C | XP_011542334.1:p.Gly3783= | |
| XM_011544033.1:c.11349A>C | XP_011542335.1:p.Gly3783= | |
| XM_011544034.1:c.11211A>C | XP_011542336.1:p.Gly3737= | |
| XM_011544036.1:c.9012A>C | XP_011542338.1:p.Gly3004= | |
| XM_011544033.2:c.11349A>C | XP_011542335.1:p.Gly3783= | |
| XM_011544036.2:c.9012A>C | XP_011542338.1:p.Gly3004= | |
| XM_017000150.1:c.11118A>C | XP_016855639.1:p.Gly3706= | |
| NM_000081.4:c.11187A>C MANE Select | NP_000072.2:p.Gly3729= |