Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40991369C= , CM000681.2:g.40991369C= | GRCh38 |
| NC_000019.9:g.41497274C= , CM000681.1:g.41497274C= | GRCh37 |
| NC_000019.8:g.46189114C= | NCBI36 |
| NG_007929.1:g.5071C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000767.5:c.64C= MANE Select | NP_000758.1:p.Arg22= |
| ENST00000324071.10:c.64C= MANE Select | ENSP00000324648.2:p.Arg22= |
| NM_000767.4:c.64C= | NP_000758.1:p.Arg22= |
| ENST00000324071.8:c.64C= | ENSP00000324648.2:p.Arg22= |
| XM_005258569.3:c.64C= | XP_005258626.1:p.Arg22= |
| XM_006723050.2:c.64C= | XP_006723113.1:p.Arg22= |
| XM_011526546.1:c.64C= | XP_011524848.1:p.Arg22= |
| XM_011526547.1:c.64C= | XP_011524849.1:p.Arg22= |
| XM_011526548.1:c.64C= | XP_011524850.1:p.Arg22= |