Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106659346T>G , CM000669.2:g.106659346T>G | GRCh38 |
| NC_000007.13:g.106299792T>G , CM000669.1:g.106299792T>G | GRCh37 |
| NC_000007.12:g.106087028T>G | NCBI36 |
| NG_051955.1:g.6843A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175884.6:c.*843A>C MANE Select | NP_787080.2:n.*843A>C |
| ENST00000523505.3:c.*843A>C MANE Select | ENSP00000430897.2:n.*843A>C |
| NM_175884.4:c.*843A>C | NP_787080.2:n.*843A>C |
| NM_175884.5:c.*843A>C | NP_787080.2:n.*843A>C |
| ENST00000315965.6:c.*553A>C | ENSP00000479540.1:n.*553A>C |
| ENST00000523505.1:c.*843A>C | ENSP00000430897.1:n.*843A>C |
| XR_001745317.1:n.120-43575A>C |