Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21168436T>A , CM000674.2:g.21168436T>A | GRCh38 |
| NC_000012.11:g.21321370T>A , CM000674.1:g.21321370T>A | GRCh37 |
| NC_000012.10:g.21212637T>A | NCBI36 |
| NG_011745.1:g.42243T>A , LRG_1022:g.42243T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.85-4214T>A MANE Select | NP_006437.3:n.85-4214T>A |
| ENST00000256958.3:c.85-4214T>A MANE Select | ENSP00000256958.2:n.85-4214T>A |
| NM_006446.4:c.85-4214T>A , LRG_1022t1:c.85-4214T>A | NP_006437.3:n.85-4214T>A |
| ENST00000256958.2:c.85-4214T>A | ENSP00000256958.2:n.85-4214T>A |
| ENST00000543498.5:c.426-8340T>A |