Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159315842A= , CM000667.2:g.159315842A= | GRCh38 |
| NC_000005.9:g.158742850A= , CM000667.1:g.158742850A= | GRCh37 |
| NC_000005.8:g.158675428A= | NCBI36 |
| NG_009618.1:g.19632T= , LRG_71:g.19632T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.*259T= | ENSP00000512849.1:n.*259T= | |
| ENST00000696751.1:c.*741T= | ENSP00000512850.1:n.*741T= | |
| ENST00000231228.3:c.*259T= MANE Select | ENSP00000231228.2:n.*259T= | |
| ENST00000231228.2:c.*259T= | ENSP00000231228.2:n.*259T= | |
| NM_002187.2:c.*259T= , LRG_71t1:c.*259T= | NP_002178.2:n.*259T= | |
| NM_002187.3:c.*259T= MANE Select | NP_002178.2:n.*259T= |