Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.51394261A>C , CM000667.2:g.51394261A>C | GRCh38 |
| NC_000005.9:g.50690095A>C , CM000667.1:g.50690095A>C | GRCh37 |
| NC_000005.8:g.50725852A>C | NCBI36 |
| NG_023040.1:g.16138A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002202.3:c.*651A>C MANE Select | NP_002193.2:n.*651A>C |
| ENST00000230658.12:c.*651A>C MANE Select | ENSP00000230658.7:n.*651A>C |
| NM_002202.2:c.*651A>C | NP_002193.2:n.*651A>C |
| ENST00000230658.11:c.*651A>C | ENSP00000230658.7:n.*651A>C |
| XM_011543380.1:c.*651A>C | XP_011541682.1:n.*651A>C |
| XM_011543380.2:c.*651A>C | XP_011541682.1:n.*651A>C |