Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225604C= , CM000668.2:g.3225604C= | GRCh38 |
| NC_000006.11:g.3225838C= , CM000668.1:g.3225838C= | GRCh37 |
| NC_000006.10:g.3170837C= | NCBI36 |
| NG_016715.1:g.7131G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.485G= MANE Select | ENSP00000259818.6:p.Arg162= | |
| ENST00000680070.1:n.1415G= | ||
| ENST00000681707.1:n.1312G= | ||
| ENST00000681757.1:n.790G= | ||
| ENST00000259818.7:c.485G= | ENSP00000259818.6:p.Arg162= | |
| ENST00000473006.1:n.602G= | ||
| NM_178012.4:c.485G= | NP_821080.1:p.Arg162= | |
| XM_011514571.1:c.269G= | XP_011512873.1:p.Arg90= | |
| NM_178012.5:c.485G= MANE Select | NP_821080.1:p.Arg162= |