Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71720741C>A , CM000667.2:g.71720741C>A | GRCh38 |
| NC_000005.9:g.71016568C>A , CM000667.1:g.71016568C>A | GRCh37 |
| NC_000005.8:g.71052324C>A | NCBI36 |
| NG_015988.1:g.6579C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004291.4:c.*126C>A MANE Select | NP_004282.1:n.*126C>A |
| ENST00000296777.5:c.*126C>A MANE Select | ENSP00000296777.4:n.*126C>A |
| NM_004291.3:c.*126C>A | NP_004282.1:n.*126C>A |
| ENST00000296777.4:c.*126C>A | ENSP00000296777.4:n.*126C>A |
| ENST00000513096.1:n.619C>A |