Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148992784A>G , CM000667.2:g.148992784A>G | GRCh38 |
| NC_000005.9:g.148372347A>G , CM000667.1:g.148372347A>G | GRCh37 |
| NC_000005.8:g.148352540A>G | NCBI36 |
| NG_007947.2:g.75391T>C , LRG_269:g.75391T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*11927T>C MANE Select | NP_078853.2:n.*11927T>C |
| ENST00000515425.6:c.*11927T>C MANE Select | ENSP00000423660.1:n.*11927T>C |
| NM_024577.3:c.*11927T>C , LRG_269t1:c.*11927T>C | NP_078853.2:n.*11927T>C |
| ENST00000504690.5:c.*12+10942T>C | ENSP00000425627.1:n.*12+10942T>C |
| ENST00000510350.1:n.231+14097T>C |