Linked Data
ClinVar Variation Id:
433409
ClinVar RCV Id:
RCV000499106
dbSNP Id:
rs1474063386
gnomAD v2:
16-16308186-G-A
gnomAD v3:
16-16214329-G-A
gnomAD v4:
16-16214329-G-A
PubMed:
PMID:15184964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16214329G>A , CM000678.2:g.16214329G>A | GRCh38 |
| NC_000016.9:g.16308186G>A , CM000678.1:g.16308186G>A | GRCh37 |
| NC_000016.8:g.16215687G>A | NCBI36 |
| NG_007558.2:g.14143C>T | |
| NG_007558.3:g.14289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.595C>T | ENSP00000507301.1:p.Gln199Ter | |
| ENST00000622290.5:c.595C>T | ENSP00000483331.2:p.Gln199Ter | |
| ENST00000205557.12:c.595C>T MANE Select | ENSP00000205557.7:p.Gln199Ter | |
| ENST00000205557.11:c.595C>T | ENSP00000205557.7:p.Gln199Ter | |
| ENST00000456970.6:c.595C>T | ENSP00000405002.2:p.Gln199Ter | |
| ENST00000574094.5:n.691C>T | ||
| ENST00000577103.1:c.*462C>T | ENSP00000459243.1:n.*462C>T | |
| ENST00000622290.4:c.595C>T | ENSP00000483331.1:p.Gln199Ter | |
| NM_001171.5:c.595C>T | NP_001162.4:p.Gln199Ter | |
| XM_011522479.1:c.595C>T | XP_011520781.1:p.Gln199Ter | |
| XM_011522480.1:c.253C>T | XP_011520782.1:p.Gln85Ter | |
| XM_011522481.1:c.253C>T | XP_011520783.1:p.Gln85Ter | |
| XM_011522482.1:c.595C>T | XP_011520784.1:p.Gln199Ter | |
| XR_932836.1:n.830C>T | ||
| XR_932837.1:n.831C>T | ||
| XR_932838.1:n.831C>T | ||
| XR_933132.1:n.381+2238G>A | ||
| NM_001351800.1:c.253C>T | NP_001338729.1:p.Gln85Ter | |
| NR_147784.1:n.632C>T | ||
| XM_011522479.2:c.595C>T | XP_011520781.1:p.Gln199Ter | |
| XM_011522481.3:c.253C>T | XP_011520783.1:p.Gln85Ter | |
| XM_011522482.3:c.595C>T | XP_011520784.1:p.Gln199Ter | |
| XM_017023212.1:c.595C>T | XP_016878701.1:p.Gln199Ter | |
| XM_017023214.1:c.595C>T | XP_016878703.1:p.Gln199Ter | |
| XM_024450261.1:c.631C>T | XP_024306029.1:p.Gln211Ter | |
| XR_001752340.1:n.596-922G>A | ||
| XR_001752341.1:n.595+1303G>A | ||
| XR_001752342.1:n.390-922G>A | ||
| XR_932836.2:n.776C>T | ||
| XR_932837.3:n.776C>T | ||
| XR_932838.3:n.776C>T | ||
| XR_933132.2:n.389+2238G>A | ||
| NM_001171.6:c.595C>T MANE Select | NP_001162.5:p.Gln199Ter |