Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290976G= , CM000668.2:g.24290976G= | GRCh38 |
| NC_000006.11:g.24291204G= , CM000668.1:g.24291204G= | GRCh37 |
| NC_000006.10:g.24399183G= | NCBI36 |
| NG_012829.1:g.72077C= | |
| NG_012829.2:g.97317C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.660C= MANE Select | ENSP00000367715.3:p.Tyr220= | |
| ENST00000378454.7:c.660C= | ENSP00000367715.3:p.Tyr220= | |
| NM_001195610.1:c.660C= | NP_001182539.1:p.Tyr220= | |
| NM_016356.4:c.660C= | NP_057440.2:p.Tyr220= | |
| NM_016356.5:c.660C= MANE Select | NP_057440.2:p.Tyr220= | |
| NM_001195610.2:c.660C= | NP_001182539.1:p.Tyr220= |