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