Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340686A>C , CM000667.2:g.146340686A>C | GRCh38 |
| NC_000005.9:g.145720249A>C , CM000667.1:g.145720249A>C | GRCh37 |
| NC_000005.8:g.145700442A>C | NCBI36 |
| NG_011885.1:g.6663A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002700.3:c.*242A>C MANE Select | NP_002691.1:n.*242A>C |
| ENST00000646991.2:c.*242A>C MANE Select | ENSP00000495718.1:n.*242A>C |