Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451599C>G , CM000674.2:g.52451599C>G | GRCh38 |
| NC_000012.11:g.52845383C>G , CM000674.1:g.52845383C>G | GRCh37 |
| NC_000012.10:g.51131650C>G | NCBI36 |
| NG_008299.1:g.5528G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.480G>C MANE Select | ENSP00000252252.3:p.Arg160= | |
| ENST00000252252.3:c.480G>C | ENSP00000252252.3:p.Arg160= | |
| NM_005555.3:c.480G>C | NP_005546.2:p.Arg160= | |
| NM_005555.4:c.480G>C MANE Select | NP_005546.2:p.Arg160= |