Linked Data
dbSNP Id:
rs776203787
ExAC:
20:53266942 T / C
gnomAD v2:
20-53266942-T-C
gnomAD v3:
20-54650403-T-C
gnomAD v4:
20-54650403-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650403T>C , CM000682.2:g.54650403T>C | GRCh38 |
| NC_000020.10:g.53266942T>C , CM000682.1:g.53266942T>C | GRCh37 |
| NC_000020.9:g.52700349T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.857-12T>C MANE Select | ENSP00000262593.5:n.857-12T>C | |
| ENST00000262593.9:c.857-12T>C | ENSP00000262593.5:n.857-12T>C | |
| ENST00000395939.5:c.533-12T>C | ENSP00000379270.1:n.533-12T>C | |
| NM_018431.4:c.857-12T>C | NP_060901.2:n.857-12T>C | |
| NM_177959.2:c.533-12T>C | NP_808874.1:n.533-12T>C | |
| XM_011528903.1:c.821-12T>C | XP_011527205.1:n.821-12T>C | |
| XM_011528904.1:c.533-12T>C | XP_011527206.1:n.533-12T>C | |
| XM_024451946.1:c.821-12T>C | XP_024307714.1:n.821-12T>C | |
| NM_018431.5:c.857-12T>C MANE Select | NP_060901.2:n.857-12T>C | |
| NM_177959.3:c.533-12T>C | NP_808874.1:n.533-12T>C |