Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169178001G= , CM000664.2:g.169178001G= | GRCh38 |
| NC_000002.11:g.170034511G= , CM000664.1:g.170034511G= | GRCh37 |
| NC_000002.10:g.169742757G= | NCBI36 |
| NG_012634.1:g.189612C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004525.3:c.10195C= MANE Select | NP_004516.2:p.Arg3399= |
| ENST00000649046.1:c.10195C= MANE Select | ENSP00000496870.1:p.Arg3399= |
| NM_004525.2:c.10195C= | NP_004516.2:p.Arg3399= |
| ENST00000263816.7:c.10195C= | ENSP00000263816.3:p.Arg3399= |
| ENST00000461418.1:n.396C= | |
| ENST00000649153.1:c.1095C= | |
| XM_011511183.1:c.10195C= | XP_011509485.1:p.Arg3399= |
| XM_011511183.3:c.10195C= | XP_011509485.1:p.Arg3399= |
| XM_011511184.1:c.7906C= | XP_011509486.1:p.Arg2636= |
| XM_011511184.2:c.7906C= | XP_011509486.1:p.Arg2636= |