ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090073T>A , CM000663.2:g.197090073T>A | GRCh38 |
| NC_000001.10:g.197059203T>A , CM000663.1:g.197059203T>A | GRCh37 |
| NC_000001.9:g.195325826T>A | NCBI36 |
| NG_015867.1:g.61622A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3128A>T | ||
| ENST00000367409.9:c.9841A>T MANE Select | ENSP00000356379.4:p.Arg3281Ter | |
| ENST00000680265.1:c.10063A>T | ENSP00000505384.1:p.Arg3355Ter | |
| ENST00000680710.1:c.9817A>T | ENSP00000506676.1:p.Arg3273Ter | |
| ENST00000294732.11:c.5086A>T | ENSP00000294732.7:p.Arg1696Ter | |
| ENST00000367408.5:c.2836A>T | ENSP00000356378.1:p.Arg946Ter | |
| ENST00000367409.8:c.9841A>T | ENSP00000356379.4:p.Arg3281Ter | |
| ENST00000612785.1:c.3799A>T | ENSP00000479244.1:p.Arg1267Ter | |
| NM_001206846.1:c.5086A>T | NP_001193775.1:p.Arg1696Ter | |
| NM_018136.4:c.9841A>T | NP_060606.3:p.Arg3281Ter | |
| NM_018136.5:c.9841A>T MANE Select | NP_060606.3:p.Arg3281Ter | |
| NM_001206846.2:c.5086A>T | NP_001193775.1:p.Arg1696Ter |