Linked Data
dbSNP Id:
rs13045180
gnomAD v2:
20-31531544-C-T
gnomAD v3:
20-32943738-C-T
gnomAD v4:
20-32943738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32943738C>T , CM000682.2:g.32943738C>T | GRCh38 |
| NC_000020.10:g.31531544C>T , CM000682.1:g.31531544C>T | GRCh37 |
| NC_000020.9:g.30995205C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400522.9:c.2893C>T MANE Select | ENSP00000383366.5:p.Gln965Ter | |
| ENST00000400522.8:c.2893C>T | ENSP00000383366.5:p.Gln965Ter | |
| XM_011529121.1:c.2893C>T | XP_011527423.1:p.Gln965Ter | |
| NM_001143967.1:c.2893C>T | NP_001137439.1:p.Gln965Ter | |
| XM_024451881.1:c.2341C>T | XP_024307649.1:p.Gln781Ter | |
| XM_024451882.1:c.2893C>T | XP_024307650.1:p.Gln965Ter | |
| XM_024451883.1:c.2790+12402C>T | XP_024307651.1:n.2790+12402C>T | |
| XM_024451884.1:c.1090C>T | XP_024307652.1:p.Gln364Ter | |
| XM_024451886.1:c.967C>T | XP_024307654.1:p.Gln323Ter | |
| XM_024451887.1:c.967C>T | XP_024307655.1:p.Gln323Ter | |
| NM_001143967.2:c.2893C>T MANE Select | NP_001137439.1:p.Gln965Ter |