Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588496A>C , CM000672.2:g.113588496A>C | GRCh38 |
| NC_000010.10:g.115348255A>C , CM000672.1:g.115348255A>C | GRCh37 |
| NC_000010.9:g.115338245A>C | NCBI36 |
| NG_008956.1:g.40478A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*127A>C MANE Select | ENSP00000277903.4:n.*127A>C | |
| ENST00000351270.3:c.*127A>C | ENSP00000277903.4:n.*127A>C | |
| ENST00000542051.5:c.*127A>C | ENSP00000443283.1:n.*127A>C | |
| NM_001177660.1:c.*127A>C | NP_001171131.1:n.*127A>C | |
| NM_004132.3:c.*127A>C | NP_004123.1:n.*127A>C | |
| NM_001177660.2:c.*127A>C | NP_001171131.1:n.*127A>C | |
| NM_004132.4:c.*127A>C | NP_004123.1:n.*127A>C | |
| NM_004132.5:c.*127A>C MANE Select | NP_004123.1:n.*127A>C | |
| NM_001177660.3:c.*127A>C | NP_001171131.1:n.*127A>C |