Linked Data
dbSNP Id:
rs1021886596
gnomAD v2:
20-53267222-C-T
gnomAD v3:
20-54650683-C-T
gnomAD v4:
20-54650683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650683C>T , CM000682.2:g.54650683C>T | GRCh38 |
| NC_000020.10:g.53267222C>T , CM000682.1:g.53267222C>T | GRCh37 |
| NC_000020.9:g.52700629C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*204C>T MANE Select | ENSP00000262593.5:n.*204C>T | |
| ENST00000262593.9:c.*204C>T | ENSP00000262593.5:n.*204C>T | |
| ENST00000395939.5:c.*204C>T | ENSP00000379270.1:n.*204C>T | |
| NM_018431.4:c.*204C>T | NP_060901.2:n.*204C>T | |
| NM_177959.2:c.*204C>T | NP_808874.1:n.*204C>T | |
| XM_011528903.1:c.*204C>T | XP_011527205.1:n.*204C>T | |
| XM_011528904.1:c.*204C>T | XP_011527206.1:n.*204C>T | |
| XM_024451946.1:c.*204C>T | XP_024307714.1:n.*204C>T | |
| NM_018431.5:c.*204C>T MANE Select | NP_060901.2:n.*204C>T | |
| NM_177959.3:c.*204C>T | NP_808874.1:n.*204C>T |