Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18042430A>C , CM000673.2:g.18042430A>C | GRCh38 |
| NC_000011.9:g.18063977A>C , CM000673.1:g.18063977A>C | GRCh37 |
| NC_000011.8:g.18020553A>C | NCBI36 |
| NG_011947.1:g.3359T>G | |
| NG_011947.2:g.3359T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004179.3:c.-26-1642T>G MANE Select | NP_004170.1:n.-26-1642T>G |
| ENST00000682019.1:c.-26-1642T>G MANE Select | ENSP00000508368.1:n.-26-1642T>G |