Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666083A= , CM000679.2:g.39666083A= | GRCh38 |
| NC_000017.10:g.37822336A= , CM000679.1:g.37822336A= | GRCh37 |
| NC_000017.9:g.35075862A= | NCBI36 |
| NG_008892.1:g.5738A= , LRG_210:g.5738A= | |
| NG_042278.1:g.3103A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.478A= MANE Select | ENSP00000312624.2:p.Met160= | |
| ENST00000309889.2:c.478A= | ENSP00000312624.2:p.Met160= | |
| ENST00000578283.1:c.406A= | ENSP00000462787.1:p.Met136= | |
| NM_003673.3:c.478A= , LRG_210t1:c.478A= | NP_003664.1:p.Met160= | |
| NM_003673.4:c.478A= MANE Select | NP_003664.1:p.Met160= |