Linked Data
ClinVar Variation Id:
1923632
ClinVar RCV Id:
RCV002604800
dbSNP Id:
rs1658157469
gnomAD v4:
1-235663045-G-A
MyVariant Identifiers:
chr1:g.235826345G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235663045G>A , CM000663.2:g.235663045G>A | GRCh38 |
| NC_000001.10:g.235826345G>A , CM000663.1:g.235826345G>A | GRCh37 |
| NC_000001.9:g.233892968G>A | NCBI36 |
| NG_007397.1:g.225596C>T , LRG_143:g.225596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.3120C>T | ||
| ENST00000697178.1:c.*7287C>T | ENSP00000513163.1:n.*7287C>T | |
| ENST00000697235.1:c.1851C>T | ENSP00000513202.1:p.Tyr617= | |
| ENST00000697236.1:c.4765C>T | ENSP00000513203.1:n.4765C>T | |
| ENST00000697237.1:c.2012C>T | ||
| ENST00000697238.1:n.455C>T | ||
| ENST00000697239.1:n.695C>T | ||
| ENST00000697240.1:c.3368C>T | ENSP00000513205.1:n.3368C>T | |
| ENST00000389793.7:c.11301C>T MANE Select | ENSP00000374443.2:p.Tyr3767= | |
| ENST00000389793.6:c.11301C>T | ENSP00000374443.2:p.Tyr3767= | |
| ENST00000389794.7:c.*6725C>T | ENSP00000374444.4:n.*6725C>T | |
| ENST00000473037.5:n.6291C>T | ||
| NM_000081.3:c.11301C>T , LRG_143t1:c.11301C>T | NP_000072.2:p.Tyr3767= | |
| NM_001301365.1:c.11301C>T , LRG_143t2:c.11301C>T | NP_001288294.1:p.Tyr3767= | |
| XM_011544031.1:c.11463C>T | XP_011542333.1:p.Tyr3821= | |
| XM_011544032.1:c.11463C>T | XP_011542334.1:p.Tyr3821= | |
| XM_011544033.1:c.11463C>T | XP_011542335.1:p.Tyr3821= | |
| XM_011544034.1:c.11325C>T | XP_011542336.1:p.Tyr3775= | |
| XM_011544036.1:c.9126C>T | XP_011542338.1:p.Tyr3042= | |
| XM_011544033.2:c.11463C>T | XP_011542335.1:p.Tyr3821= | |
| XM_011544036.2:c.9126C>T | XP_011542338.1:p.Tyr3042= | |
| XM_017000150.1:c.11232C>T | XP_016855639.1:p.Tyr3744= | |
| NM_000081.4:c.11301C>T MANE Select | NP_000072.2:p.Tyr3767= |