Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44388443T>G , CM000667.2:g.44388443T>G | GRCh38 |
| NC_000005.9:g.44388545T>G , CM000667.1:g.44388545T>G | GRCh37 |
| NC_000005.8:g.44424302T>G | NCBI36 |
| NG_011446.1:g.5240A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004465.2:c.240A>C MANE Select | NP_004456.1:p.Arg80Ser |
| ENST00000264664.5:c.240A>C MANE Select | ENSP00000264664.4:p.Arg80Ser |
| NM_004465.1:c.240A>C | NP_004456.1:p.Arg80Ser |
| ENST00000264664.4:c.240A>C | ENSP00000264664.4:p.Arg80Ser |
| XM_005248264.2:c.240A>C | XP_005248321.1:p.Arg80Ser |
| XM_005248264.4:c.240A>C | XP_005248321.1:p.Arg80Ser |