Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124745927A>C , CM000665.2:g.124745927A>C | GRCh38 |
| NC_000003.11:g.124464774A>C , CM000665.1:g.124464774A>C | GRCh37 |
| NC_000003.10:g.125947464A>C | NCBI36 |
| NG_017037.1:g.20562A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.4:c.*1843A>C MANE Select | NP_000364.1:n.*1843A>C |
| ENST00000232607.7:c.*1843A>C MANE Select | ENSP00000232607.2:n.*1843A>C |
| NM_000373.3:c.*1843A>C | NP_000364.1:n.*1843A>C |
| NR_033434.1:n.3238A>C | |
| NR_033434.2:n.3152A>C | |
| NR_033437.1:n.3491A>C | |
| NR_033437.2:n.3405A>C | |
| ENST00000232607.6:c.*1843A>C | ENSP00000232607.2:n.*1843A>C |
| XR_001740253.2:n.3520A>C |