Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145076G= , CM000668.2:g.6145076G= | GRCh38 |
| NC_000006.11:g.6145309G= , CM000668.1:g.6145309G= | GRCh37 |
| NC_000006.10:g.6090308G= | NCBI36 |
| NG_008107.1:g.180616C= , LRG_549:g.180616C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*543C= MANE Select | ENSP00000264870.3:n.*543C= | |
| ENST00000264870.7:c.*543C= | ENSP00000264870.3:n.*543C= | |
| NM_000129.3:c.*543C= , LRG_549t1:c.*543C= | NP_000120.2:n.*543C= | |
| XM_006715010.2:c.*543C= | XP_006715073.1:n.*543C= | |
| XM_011514342.1:c.*543C= | XP_011512644.1:n.*543C= | |
| NM_000129.4:c.*543C= MANE Select | NP_000120.2:n.*543C= |