Linked Data
ClinVar Variation Id:
5764
ClinVar RCV Id:
RCV000006120
dbSNP Id:
rs121908495
ExAC:
11:20660023 C / T
gnomAD v2:
11-20660023-C-T
gnomAD v4:
11-20638477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20638477C>T , CM000673.2:g.20638477C>T | GRCh38 |
| NC_000011.9:g.20660023C>T , CM000673.1:g.20660023C>T | GRCh37 |
| NC_000011.8:g.20616599C>T | NCBI36 |
| NG_013086.1:g.44078C>T | |
| NG_013086.2:g.44078C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525748.6:c.1888C>T MANE Select | ENSP00000434364.2:p.Gln630Ter | |
| ENST00000298923.11:c.*1185C>T | ENSP00000298923.7:n.*1185C>T | |
| ENST00000525748.5:c.1888C>T | ENSP00000434364.1:p.Gln630Ter | |
| ENST00000528440.1:n.419C>T | ||
| NM_004211.3:c.1888C>T | NP_004202.2:p.Gln630Ter | |
| XM_005253225.1:c.1186C>T | XP_005253282.1:p.Gln396Ter | |
| XM_011520473.1:c.1888C>T | XP_011518775.1:p.Gln630Ter | |
| NM_001318369.1:c.1186C>T | NP_001305298.1:p.Gln396Ter | |
| NM_004211.4:c.1888C>T | NP_004202.3:p.Gln630Ter | |
| XM_017018544.2:c.1012C>T | XP_016874033.1:p.Gln338Ter | |
| XM_017018545.2:c.847C>T | XP_016874034.1:p.Gln283Ter | |
| NM_001318369.2:c.1186C>T | NP_001305298.1:p.Gln396Ter | |
| NM_004211.5:c.1888C>T MANE Select | NP_004202.4:p.Gln630Ter |