Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24174727G= , CM000668.2:g.24174727G= | GRCh38 |
| NC_000006.11:g.24174955G= , CM000668.1:g.24174955G= | GRCh37 |
| NC_000006.10:g.24282934G= | NCBI36 |
| NG_012829.1:g.188326C= | |
| NG_012829.2:g.213566C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.*3C= MANE Select | ENSP00000367715.3:n.*3C= | |
| ENST00000378450.6:c.*3C= | ENSP00000367711.3:n.*3C= | |
| ENST00000378454.7:c.*3C= | ENSP00000367715.3:n.*3C= | |
| NM_001195610.1:c.*3C= | NP_001182539.1:n.*3C= | |
| NM_016356.4:c.*3C= | NP_057440.2:n.*3C= | |
| NM_016356.5:c.*3C= MANE Select | NP_057440.2:n.*3C= | |
| NM_001195610.2:c.*3C= | NP_001182539.1:n.*3C= |