Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33006064G= , CM000668.2:g.33006064G= | GRCh38 |
| NC_000006.11:g.32973841G= , CM000668.1:g.32973841G= | GRCh37 |
| NC_000006.10:g.33081819G= | NCBI36 |
| NG_012007.1:g.8549C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002119.4:c.*774C= MANE Select | NP_002110.1:n.*774C= |
| ENST00000229829.7:c.*774C= MANE Select | ENSP00000229829.3:n.*774C= |
| NM_002119.3:c.*774C= | NP_002110.1:n.*774C= |
| ENST00000229829.6:c.*774C= | ENSP00000229829.3:n.*774C= |