Linked Data
dbSNP Id:
rs747856502
ExAC:
20:53267048 T / A
gnomAD v2:
20-53267048-T-A
gnomAD v4:
20-54650509-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650509T>A , CM000682.2:g.54650509T>A | GRCh38 |
| NC_000020.10:g.53267048T>A , CM000682.1:g.53267048T>A | GRCh37 |
| NC_000020.9:g.52700455T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*30T>A MANE Select | ENSP00000262593.5:n.*30T>A | |
| ENST00000262593.9:c.*30T>A | ENSP00000262593.5:n.*30T>A | |
| ENST00000395939.5:c.*30T>A | ENSP00000379270.1:n.*30T>A | |
| NM_018431.4:c.*30T>A | NP_060901.2:n.*30T>A | |
| NM_177959.2:c.*30T>A | NP_808874.1:n.*30T>A | |
| XM_011528903.1:c.*30T>A | XP_011527205.1:n.*30T>A | |
| XM_011528904.1:c.*30T>A | XP_011527206.1:n.*30T>A | |
| XM_024451946.1:c.*30T>A | XP_024307714.1:n.*30T>A | |
| NM_018431.5:c.*30T>A MANE Select | NP_060901.2:n.*30T>A | |
| NM_177959.3:c.*30T>A | NP_808874.1:n.*30T>A |