Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148999175A>C , CM000667.2:g.148999175A>C | GRCh38 |
| NC_000005.9:g.148378738A>C , CM000667.1:g.148378738A>C | GRCh37 |
| NC_000005.8:g.148358931A>C | NCBI36 |
| NG_007947.2:g.69000T>G , LRG_269:g.69000T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*5536T>G MANE Select | NP_078853.2:n.*5536T>G |
| ENST00000515425.6:c.*5536T>G MANE Select | ENSP00000423660.1:n.*5536T>G |
| NM_024577.3:c.*5536T>G , LRG_269t1:c.*5536T>G | NP_078853.2:n.*5536T>G |
| ENST00000504690.5:c.*12+4551T>G | ENSP00000425627.1:n.*12+4551T>G |
| ENST00000510350.1:n.231+7706T>G |