Linked Data
ClinVar Variation Id:
433415
ClinVar RCV Id:
RCV000499167
dbSNP Id:
rs879956688
gnomAD v2:
16-16313512-C-A
gnomAD v4:
16-16219655-C-A
PubMed:
PMID:16086317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16219655C>A , CM000678.2:g.16219655C>A | GRCh38 |
| NC_000016.9:g.16313512C>A , CM000678.1:g.16313512C>A | GRCh37 |
| NC_000016.8:g.16221013C>A | NCBI36 |
| NG_007558.2:g.8817G>T | |
| NG_007558.3:g.8963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.373G>T | ENSP00000507301.1:p.Glu125Ter | |
| ENST00000622290.5:c.373G>T | ENSP00000483331.2:p.Glu125Ter | |
| ENST00000205557.12:c.373G>T MANE Select | ENSP00000205557.7:p.Glu125Ter | |
| ENST00000205557.11:c.373G>T | ENSP00000205557.7:p.Glu125Ter | |
| ENST00000456970.6:c.373G>T | ENSP00000405002.2:p.Glu125Ter | |
| ENST00000574094.5:n.469G>T | ||
| ENST00000577103.1:c.*240G>T | ENSP00000459243.1:n.*240G>T | |
| ENST00000622290.4:c.373G>T | ENSP00000483331.1:p.Glu125Ter | |
| NM_001171.5:c.373G>T | NP_001162.4:p.Glu125Ter | |
| XM_011522479.1:c.373G>T | XP_011520781.1:p.Glu125Ter | |
| XM_011522480.1:c.31G>T | XP_011520782.1:p.Glu11Ter | |
| XM_011522481.1:c.31G>T | XP_011520783.1:p.Glu11Ter | |
| XM_011522482.1:c.373G>T | XP_011520784.1:p.Glu125Ter | |
| XR_932836.1:n.608G>T | ||
| XR_932837.1:n.609G>T | ||
| XR_932838.1:n.609G>T | ||
| NM_001351800.1:c.31G>T | NP_001338729.1:p.Glu11Ter | |
| NR_147784.1:n.410G>T | ||
| XM_011522479.2:c.373G>T | XP_011520781.1:p.Glu125Ter | |
| XM_011522481.3:c.31G>T | XP_011520783.1:p.Glu11Ter | |
| XM_011522482.3:c.373G>T | XP_011520784.1:p.Glu125Ter | |
| XM_017023212.1:c.373G>T | XP_016878701.1:p.Glu125Ter | |
| XM_017023214.1:c.373G>T | XP_016878703.1:p.Glu125Ter | |
| XM_024450261.1:c.409G>T | XP_024306029.1:p.Glu137Ter | |
| XR_932836.2:n.554G>T | ||
| XR_932837.3:n.554G>T | ||
| XR_932838.3:n.554G>T | ||
| NM_001171.6:c.373G>T MANE Select | NP_001162.5:p.Glu125Ter |