Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316018T= , CM000667.2:g.159316018T= | GRCh38 |
| NC_000005.9:g.158743026T= , CM000667.1:g.158743026T= | GRCh37 |
| NC_000005.8:g.158675604T= | NCBI36 |
| NG_009618.1:g.19456A= , LRG_71:g.19456A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*83A= | ENSP00000512849.1:n.*83A= | |
| ENST00000696751.1:c.*565A= | ENSP00000512850.1:n.*565A= | |
| ENST00000231228.3:c.*83A= MANE Select | ENSP00000231228.2:n.*83A= | |
| ENST00000231228.2:c.*83A= | ENSP00000231228.2:n.*83A= | |
| NM_002187.2:c.*83A= , LRG_71t1:c.*83A= | NP_002178.2:n.*83A= | |
| NM_002187.3:c.*83A= MANE Select | NP_002178.2:n.*83A= |