Linked Data
ClinVar Variation Id:
6580
ClinVar RCV Id:
RCV000006958
dbSNP Id:
rs63749823
gnomAD v3:
16-16154953-C-T
gnomAD v4:
16-16154953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154953C>T , CM000678.2:g.16154953C>T | GRCh38 |
| NC_000016.9:g.16248810C>T , CM000678.1:g.16248810C>T | GRCh37 |
| NC_000016.8:g.16156311C>T | NCBI36 |
| NG_007558.2:g.73519G>A | |
| NG_007558.3:g.73665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.824G>A | ||
| ENST00000622290.5:c.*133G>A | ENSP00000483331.2:n.*133G>A | |
| ENST00000205557.12:c.3961G>A MANE Select | ENSP00000205557.7:p.Gly1321Ser | |
| ENST00000640696.1:c.775G>A | ENSP00000492197.1:p.Gly259Ser | |
| ENST00000205557.11:c.3961G>A | ENSP00000205557.7:p.Gly1321Ser | |
| ENST00000456970.6:c.3586G>A | ENSP00000405002.2:n.3586G>A | |
| ENST00000576204.5:n.824G>A | ||
| ENST00000622290.4:c.*1170G>A | ENSP00000483331.1:n.*1170G>A | |
| NM_001171.5:c.3961G>A | NP_001162.4:p.Gly1321Ser | |
| XM_011522479.1:c.3928G>A | XP_011520781.1:p.Gly1310Ser | |
| XM_011522480.1:c.3619G>A | XP_011520782.1:p.Gly1207Ser | |
| XM_011522481.1:c.3619G>A | XP_011520783.1:p.Gly1207Ser | |
| XR_932836.1:n.4259G>A | ||
| XR_932837.1:n.3997G>A | ||
| XR_932838.1:n.4060G>A | ||
| XR_933134.1:n.539-4828C>T | ||
| NM_001351800.1:c.3619G>A | NP_001338729.1:p.Gly1207Ser | |
| NR_147784.1:n.3623G>A | ||
| XM_011522479.2:c.3928G>A | XP_011520781.1:p.Gly1310Ser | |
| XM_011522481.3:c.3619G>A | XP_011520783.1:p.Gly1207Ser | |
| XM_017023212.1:c.3793G>A | XP_016878701.1:p.Gly1265Ser | |
| XM_024450261.1:c.3997G>A | XP_024306029.1:p.Gly1333Ser | |
| XR_932837.3:n.3942G>A | ||
| NM_001171.6:c.3961G>A MANE Select | NP_001162.5:p.Gly1321Ser |