Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138117973A>C , CM000669.2:g.138117973A>C | GRCh38 |
| NC_000007.13:g.137802719A>C , CM000669.1:g.137802719A>C | GRCh37 |
| NC_000007.12:g.137453259A>C | NCBI36 |
| NG_023342.1:g.46542A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005989.4:c.*1311A>C MANE Select | NP_005980.1:n.*1311A>C |
| ENST00000242375.8:c.*1311A>C MANE Select | ENSP00000242375.3:n.*1311A>C |
| NM_001190906.1:c.*1311A>C | NP_001177835.1:n.*1311A>C |
| NM_001190906.2:c.*1311A>C | NP_001177835.1:n.*1311A>C |
| NM_001190907.1:c.*1336A>C | NP_001177836.1:n.*1336A>C |
| NM_001190907.2:c.*1336A>C | NP_001177836.1:n.*1336A>C |
| NM_005989.3:c.*1311A>C | NP_005980.1:n.*1311A>C |
| ENST00000242375.7:c.*1311A>C | ENSP00000242375.3:n.*1311A>C |
| ENST00000411726.6:c.*1311A>C | ENSP00000402374.2:n.*1311A>C |