Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250740C= , CM000664.2:g.219250740C= | GRCh38 |
| NC_000002.11:g.220115462C= , CM000664.1:g.220115462C= | GRCh37 |
| NC_000002.10:g.219823706C= | NCBI36 |
| NG_029913.1:g.8177G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006000.3:c.959G= MANE Select | NP_005991.1:p.Arg320= |
| ENST00000248437.9:c.959G= MANE Select | ENSP00000248437.4:p.Arg320= |
| NM_001278552.1:c.914G= | NP_001265481.1:p.Arg305= |
| NM_001278552.2:c.914G= | NP_001265481.1:p.Arg305= |
| NM_006000.2:c.959G= | NP_005991.1:p.Arg320= |
| ENST00000248437.8:c.959G= | ENSP00000248437.4:p.Arg320= |
| ENST00000392088.6:c.914G= | ENSP00000375938.2:p.Arg305= |
| ENST00000498660.1:n.779G= | |
| XM_005246832.1:c.914G= | XP_005246889.1:p.Arg305= |
| XM_017004824.1:c.500G= | XP_016860313.1:p.Arg167= |