ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235731179T>C , CM000663.2:g.235731179T>C | GRCh38 |
| NC_000001.10:g.235894479T>C , CM000663.1:g.235894479T>C | GRCh37 |
| NC_000001.9:g.233961102T>C | NCBI36 |
| NG_007397.1:g.157462A>G , LRG_143:g.157462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.4330-2A>G | ENSP00000513165.1:n.4330-2A>G | |
| ENST00000475277.2:c.897-2A>G | ENSP00000513164.1:n.897-2A>G | |
| ENST00000697178.1:c.*4226-2A>G | ENSP00000513163.1:n.*4226-2A>G | |
| ENST00000697236.1:c.2511-2A>G | ENSP00000513203.1:n.2511-2A>G | |
| ENST00000697240.1:c.936-2A>G | ENSP00000513205.1:n.936-2A>G | |
| ENST00000697241.1:c.3282-2A>G | ENSP00000513206.1:n.3282-2A>G | |
| ENST00000389793.7:c.8802-2A>G MANE Select | ENSP00000374443.2:n.8802-2A>G | |
| ENST00000389793.6:c.8802-2A>G | ENSP00000374443.2:n.8802-2A>G | |
| ENST00000389794.7:c.*4226-2A>G | ENSP00000374444.4:n.*4226-2A>G | |
| ENST00000473037.5:n.3792-2A>G | ||
| NM_000081.3:c.8802-2A>G , LRG_143t1:c.8802-2A>G | NP_000072.2:n.8802-2A>G | |
| NM_001301365.1:c.8802-2A>G , LRG_143t2:c.8802-2A>G | NP_001288294.1:n.8802-2A>G | |
| XM_011544031.1:c.8964-2A>G | XP_011542333.1:n.8964-2A>G | |
| XM_011544032.1:c.8964-2A>G | XP_011542334.1:n.8964-2A>G | |
| XM_011544033.1:c.8964-2A>G | XP_011542335.1:n.8964-2A>G | |
| XM_011544034.1:c.8826-2A>G | XP_011542336.1:n.8826-2A>G | |
| XM_011544035.1:c.8964-2A>G | XP_011542337.1:n.8964-2A>G | |
| XM_011544036.1:c.6627-2A>G | XP_011542338.1:n.6627-2A>G | |
| XM_011544033.2:c.8964-2A>G | XP_011542335.1:n.8964-2A>G | |
| XM_011544035.2:c.8964-2A>G | XP_011542337.1:n.8964-2A>G | |
| XM_011544036.2:c.6627-2A>G | XP_011542338.1:n.6627-2A>G | |
| XM_017000150.1:c.8964-2A>G | XP_016855639.1:n.8964-2A>G | |
| XR_001736947.1:n.9837-2A>G | ||
| NM_000081.4:c.8802-2A>G MANE Select | NP_000072.2:n.8802-2A>G |