Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145363C= , CM000668.2:g.6145363C= | GRCh38 |
| NC_000006.11:g.6145596C= , CM000668.1:g.6145596C= | GRCh37 |
| NC_000006.10:g.6090595C= | NCBI36 |
| NG_008107.1:g.180329G= , LRG_549:g.180329G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*256G= MANE Select | ENSP00000264870.3:n.*256G= | |
| ENST00000264870.7:c.*256G= | ENSP00000264870.3:n.*256G= | |
| NM_000129.3:c.*256G= , LRG_549t1:c.*256G= | NP_000120.2:n.*256G= | |
| XM_006715010.2:c.*256G= | XP_006715073.1:n.*256G= | |
| XM_011514342.1:c.*256G= | XP_011512644.1:n.*256G= | |
| NM_000129.4:c.*256G= MANE Select | NP_000120.2:n.*256G= |