Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648922C>A , CM000669.2:g.152648922C>A | GRCh38 |
| NC_000007.13:g.152346007C>A , CM000669.1:g.152346007C>A | GRCh37 |
| NC_000007.12:g.151976940C>A | NCBI36 |
| NG_027988.1:g.32244G>T | |
| NG_027988.2:g.32244G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.563G>T MANE Select | NP_005422.1:p.Arg188Leu |
| ENST00000359321.2:c.563G>T MANE Select | ENSP00000352271.1:p.Arg188Leu |
| NM_005431.1:c.563G>T | NP_005422.1:p.Arg188Leu |
| ENST00000359321.1:c.563G>T | ENSP00000352271.1:p.Arg188Leu |
| ENST00000495707.1:n.585G>T | |
| ENST00000698506.1:c.395G>T | ENSP00000513758.1:p.Arg132Leu |