Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186453389G>T , CM000663.2:g.186453389G>T | GRCh38 |
| NC_000001.10:g.186422521G>T , CM000663.1:g.186422521G>T | GRCh37 |
| NC_000001.9:g.184689144G>T | NCBI36 |
| NG_009101.1:g.12719C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391997.3:c.-24-3906C>A (PDC) MANE Select | ENSP00000375855.2:n.-24-3906C>A | |
| ENST00000391997.2:c.-24-3906C>A (PDC) | ENSP00000375855.2:n.-24-3906C>A | |
| NM_002597.4:c.-24-3906C>A (PDC) | NP_002588.3:n.-24-3906C>A | |
| NR_126002.1:n.441+2115G>T (PDC-AS1) | ||
| NM_002597.5:c.-24-3906C>A (PDC) MANE Select | NP_002588.3:n.-24-3906C>A |