Linked Data
ClinVar Variation Id:
433321
ClinVar RCV Id:
RCV003558409
dbSNP Id:
rs72653745
PubMed:
PMID:15086542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159549C>T , CM000678.2:g.16159549C>T | GRCh38 |
| NC_000016.9:g.16253406C>T , CM000678.1:g.16253406C>T | GRCh37 |
| NC_000016.8:g.16160907C>T | NCBI36 |
| NG_007558.2:g.68923G>A | |
| NG_007558.3:g.69069G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3668G>A | ENSP00000483331.2:p.Trp1223Ter | |
| ENST00000205557.12:c.3668G>A MANE Select | ENSP00000205557.7:p.Trp1223Ter | |
| ENST00000640696.1:c.482G>A | ENSP00000492197.1:p.Trp161Ter | |
| ENST00000205557.11:c.3668G>A | ENSP00000205557.7:p.Trp1223Ter | |
| ENST00000456970.6:c.3293G>A | ENSP00000405002.2:n.3293G>A | |
| ENST00000622290.4:c.*877G>A | ENSP00000483331.1:n.*877G>A | |
| NM_001171.5:c.3668G>A | NP_001162.4:p.Trp1223Ter | |
| XM_011522479.1:c.3635G>A | XP_011520781.1:p.Trp1212Ter | |
| XM_011522480.1:c.3326G>A | XP_011520782.1:p.Trp1109Ter | |
| XM_011522481.1:c.3326G>A | XP_011520783.1:p.Trp1109Ter | |
| XR_932836.1:n.3903G>A | ||
| XR_932837.1:n.3704G>A | ||
| XR_932838.1:n.3704G>A | ||
| XR_933134.1:n.539-232C>T | ||
| NM_001351800.1:c.3326G>A | NP_001338729.1:p.Trp1109Ter | |
| NR_147784.1:n.3330G>A | ||
| XM_011522479.2:c.3635G>A | XP_011520781.1:p.Trp1212Ter | |
| XM_011522481.3:c.3326G>A | XP_011520783.1:p.Trp1109Ter | |
| XM_017023212.1:c.3500G>A | XP_016878701.1:p.Trp1167Ter | |
| XM_024450261.1:c.3704G>A | XP_024306029.1:p.Trp1235Ter | |
| XR_932836.2:n.3849G>A | ||
| XR_932837.3:n.3649G>A | ||
| XR_932838.3:n.3649G>A | ||
| NM_001171.6:c.3668G>A MANE Select | NP_001162.5:p.Trp1223Ter |