Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111596G= , CM000670.2:g.118111596G= | GRCh38 |
| NC_000008.10:g.119123835G= , CM000670.1:g.119123835G= | GRCh37 |
| NC_000008.9:g.119193016G= | NCBI36 |
| NG_007455.2:g.5224C= , LRG_493:g.5224C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-550C= MANE Select | ENSP00000367446.3:n.-550C= | |
| ENST00000378204.6:c.-550C= | ENSP00000367446.2:n.-550C= | |
| NM_000127.2:c.-550C= , LRG_493t1:c.-550C= | NP_000118.2:n.-550C= | |
| NM_000127.3:c.-550C= MANE Select | NP_000118.2:n.-550C= |