Linked Data
ClinVar Variation Id:
433339
ClinVar RCV Id:
RCV002298628
dbSNP Id:
rs72653750
gnomAD v3:
16-16154943-C-T
gnomAD v4:
16-16154943-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154943C>T , CM000678.2:g.16154943C>T | GRCh38 |
| NC_000016.9:g.16248800C>T , CM000678.1:g.16248800C>T | GRCh37 |
| NC_000016.8:g.16156301C>T | NCBI36 |
| NG_007558.2:g.73529G>A | |
| NG_007558.3:g.73675G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.834G>A | ||
| ENST00000622290.5:c.*143G>A | ENSP00000483331.2:n.*143G>A | |
| ENST00000205557.12:c.3971G>A MANE Select | ENSP00000205557.7:p.Trp1324Ter | |
| ENST00000640696.1:c.785G>A | ENSP00000492197.1:p.Trp262Ter | |
| ENST00000205557.11:c.3971G>A | ENSP00000205557.7:p.Trp1324Ter | |
| ENST00000456970.6:c.3596G>A | ENSP00000405002.2:n.3596G>A | |
| ENST00000576204.5:n.834G>A | ||
| ENST00000622290.4:c.*1180G>A | ENSP00000483331.1:n.*1180G>A | |
| NM_001171.5:c.3971G>A | NP_001162.4:p.Trp1324Ter | |
| XM_011522479.1:c.3938G>A | XP_011520781.1:p.Trp1313Ter | |
| XM_011522480.1:c.3629G>A | XP_011520782.1:p.Trp1210Ter | |
| XM_011522481.1:c.3629G>A | XP_011520783.1:p.Trp1210Ter | |
| XR_933134.1:n.539-4838C>T | ||
| NM_001351800.1:c.3629G>A | NP_001338729.1:p.Trp1210Ter | |
| NR_147784.1:n.3633G>A | ||
| XM_011522479.2:c.3938G>A | XP_011520781.1:p.Trp1313Ter | |
| XM_011522481.3:c.3629G>A | XP_011520783.1:p.Trp1210Ter | |
| XM_017023212.1:c.3803G>A | XP_016878701.1:p.Trp1268Ter | |
| XM_024450261.1:c.4007G>A | XP_024306029.1:p.Trp1336Ter | |
| XR_932837.3:n.3952G>A | ||
| NM_001171.6:c.3971G>A MANE Select | NP_001162.5:p.Trp1324Ter |