ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197089991C>A , CM000663.2:g.197089991C>A | GRCh38 |
| NC_000001.10:g.197059121C>A , CM000663.1:g.197059121C>A | GRCh37 |
| NC_000001.9:g.195325744C>A | NCBI36 |
| NG_015867.1:g.61704G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3210G>T | ||
| ENST00000367409.9:c.9923G>T MANE Select | ENSP00000356379.4:p.Arg3308Leu | |
| ENST00000680265.1:c.10145G>T | ENSP00000505384.1:p.Arg3382Leu | |
| ENST00000680710.1:c.9899G>T | ENSP00000506676.1:p.Arg3300Leu | |
| ENST00000294732.11:c.5168G>T | ENSP00000294732.7:p.Arg1723Leu | |
| ENST00000367408.5:c.2918G>T | ENSP00000356378.1:p.Arg973Leu | |
| ENST00000367409.8:c.9923G>T | ENSP00000356379.4:p.Arg3308Leu | |
| ENST00000612785.1:c.3881G>T | ENSP00000479244.1:p.Arg1294Leu | |
| NM_001206846.1:c.5168G>T | NP_001193775.1:p.Arg1723Leu | |
| NM_018136.4:c.9923G>T | NP_060606.3:p.Arg3308Leu | |
| NM_018136.5:c.9923G>T MANE Select | NP_060606.3:p.Arg3308Leu | |
| NM_001206846.2:c.5168G>T | NP_001193775.1:p.Arg1723Leu |