Linked Data
dbSNP Id:
rs538040340
gnomAD v2:
20-53267046-C-G
gnomAD v3:
20-54650507-C-G
gnomAD v4:
20-54650507-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650507C>G , CM000682.2:g.54650507C>G | GRCh38 |
| NC_000020.10:g.53267046C>G , CM000682.1:g.53267046C>G | GRCh37 |
| NC_000020.9:g.52700453C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*28C>G MANE Select | ENSP00000262593.5:n.*28C>G | |
| ENST00000262593.9:c.*28C>G | ENSP00000262593.5:n.*28C>G | |
| ENST00000395939.5:c.*28C>G | ENSP00000379270.1:n.*28C>G | |
| NM_018431.4:c.*28C>G | NP_060901.2:n.*28C>G | |
| NM_177959.2:c.*28C>G | NP_808874.1:n.*28C>G | |
| XM_011528903.1:c.*28C>G | XP_011527205.1:n.*28C>G | |
| XM_011528904.1:c.*28C>G | XP_011527206.1:n.*28C>G | |
| XM_024451946.1:c.*28C>G | XP_024307714.1:n.*28C>G | |
| NM_018431.5:c.*28C>G MANE Select | NP_060901.2:n.*28C>G | |
| NM_177959.3:c.*28C>G | NP_808874.1:n.*28C>G |