Linked Data
dbSNP Id:
rs373557448
ExAC:
20:53267054 G / A
gnomAD v2:
20-53267054-G-A
gnomAD v3:
20-54650515-G-A
gnomAD v4:
20-54650515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650515G>A , CM000682.2:g.54650515G>A | GRCh38 |
| NC_000020.10:g.53267054G>A , CM000682.1:g.53267054G>A | GRCh37 |
| NC_000020.9:g.52700461G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*36G>A MANE Select | ENSP00000262593.5:n.*36G>A | |
| ENST00000262593.9:c.*36G>A | ENSP00000262593.5:n.*36G>A | |
| ENST00000395939.5:c.*36G>A | ENSP00000379270.1:n.*36G>A | |
| NM_018431.4:c.*36G>A | NP_060901.2:n.*36G>A | |
| NM_177959.2:c.*36G>A | NP_808874.1:n.*36G>A | |
| XM_011528903.1:c.*36G>A | XP_011527205.1:n.*36G>A | |
| XM_011528904.1:c.*36G>A | XP_011527206.1:n.*36G>A | |
| XM_024451946.1:c.*36G>A | XP_024307714.1:n.*36G>A | |
| NM_018431.5:c.*36G>A MANE Select | NP_060901.2:n.*36G>A | |
| NM_177959.3:c.*36G>A | NP_808874.1:n.*36G>A |