Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74262229T>C , CM000676.2:g.74262229T>C | GRCh38 |
| NC_000014.8:g.74728932T>C , CM000676.1:g.74728932T>C | GRCh37 |
| NC_000014.7:g.73798685T>C | NCBI36 |
| NG_013092.1:g.27758T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182894.3:c.*1310T>C MANE Select | NP_878314.1:n.*1310T>C |
| ENST00000261980.3:c.*1310T>C MANE Select | ENSP00000261980.2:n.*1310T>C |
| NM_182894.2:c.*1310T>C | NP_878314.1:n.*1310T>C |
| ENST00000261980.2:c.*1310T>C | ENSP00000261980.2:n.*1310T>C |
| XM_011536719.1:c.2453T>C | XP_011535021.1:n.2453T>C |