Linked Data
dbSNP Id:
rs12402521
gnomAD v2:
1-186422521-G-A
gnomAD v3:
1-186453389-G-A
gnomAD v4:
1-186453389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186453389G>A , CM000663.2:g.186453389G>A | GRCh38 |
| NC_000001.10:g.186422521G>A , CM000663.1:g.186422521G>A | GRCh37 |
| NC_000001.9:g.184689144G>A | NCBI36 |
| NG_009101.1:g.12719C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391997.3:c.-24-3906C>T (PDC) MANE Select | ENSP00000375855.2:n.-24-3906C>T | |
| ENST00000391997.2:c.-24-3906C>T (PDC) | ENSP00000375855.2:n.-24-3906C>T | |
| NM_002597.4:c.-24-3906C>T (PDC) | NP_002588.3:n.-24-3906C>T | |
| NR_126002.1:n.441+2115G>A (PDC-AS1) | ||
| NM_002597.5:c.-24-3906C>T (PDC) MANE Select | NP_002588.3:n.-24-3906C>T |