Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451587A>G , CM000674.2:g.52451587A>G | GRCh38 |
| NC_000012.11:g.52845371A>G , CM000674.1:g.52845371A>G | GRCh37 |
| NC_000012.10:g.51131638A>G | NCBI36 |
| NG_008299.1:g.5540T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.492T>C MANE Select | ENSP00000252252.3:p.Arg164= | |
| ENST00000252252.3:c.492T>C | ENSP00000252252.3:p.Arg164= | |
| NM_005555.3:c.492T>C | NP_005546.2:p.Arg164= | |
| NM_005555.4:c.492T>C MANE Select | NP_005546.2:p.Arg164= |