Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447796A>C , CM000674.2:g.52447796A>C | GRCh38 |
| NC_000012.11:g.52841580A>C , CM000674.1:g.52841580A>C | GRCh37 |
| NC_000012.10:g.51127847A>C | NCBI36 |
| NG_008299.1:g.9331T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005555.4:c.1406T>G MANE Select | NP_005546.2:p.Leu469Arg |
| ENST00000252252.4:c.1406T>G MANE Select | ENSP00000252252.3:p.Leu469Arg |
| NM_005555.3:c.1406T>G | NP_005546.2:p.Leu469Arg |
| ENST00000252252.3:c.1406T>G | ENSP00000252252.3:p.Leu469Arg |