Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305045G>T , CM000667.2:g.44305045G>T | GRCh38 |
| NC_000005.9:g.44305147G>T , CM000667.1:g.44305147G>T | GRCh37 |
| NC_000005.8:g.44340904G>T | NCBI36 |
| NG_011446.1:g.88638C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004465.2:c.577C>A MANE Select | NP_004456.1:p.Arg193= |
| ENST00000264664.5:c.577C>A MANE Select | ENSP00000264664.4:p.Arg193= |
| NM_004465.1:c.577C>A | NP_004456.1:p.Arg193= |
| ENST00000264664.4:c.577C>A | ENSP00000264664.4:p.Arg193= |
| XM_005248264.2:c.577C>A | XP_005248321.1:p.Arg193= |
| XM_005248264.4:c.577C>A | XP_005248321.1:p.Arg193= |