Linked Data
ClinVar Variation Id:
433364
ClinVar RCV Id:
RCV000499356
dbSNP Id:
rs72653751
PubMed:
PMID:17724214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150225T>A , CM000678.2:g.16150225T>A | GRCh38 |
| NC_000016.9:g.16244082T>A , CM000678.1:g.16244082T>A | GRCh37 |
| NC_000016.8:g.16151583T>A | NCBI36 |
| NG_007558.2:g.78247A>T | |
| NG_007558.3:g.78393A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*592A>T | ENSP00000483331.2:n.*592A>T | |
| ENST00000205557.12:c.4420A>T MANE Select | ENSP00000205557.7:p.Lys1474Ter | |
| ENST00000640696.1:c.1234A>T | ENSP00000492197.1:p.Lys412Ter | |
| ENST00000205557.11:c.4420A>T | ENSP00000205557.7:p.Lys1474Ter | |
| ENST00000456970.6:c.4045A>T | ENSP00000405002.2:n.4045A>T | |
| ENST00000576204.5:n.1283A>T | ||
| ENST00000622290.4:c.*1629A>T | ENSP00000483331.1:n.*1629A>T | |
| NM_001171.5:c.4420A>T | NP_001162.4:p.Lys1474Ter | |
| XM_011522479.1:c.4387A>T | XP_011520781.1:p.Lys1463Ter | |
| XM_011522480.1:c.4078A>T | XP_011520782.1:p.Lys1360Ter | |
| XM_011522481.1:c.4078A>T | XP_011520783.1:p.Lys1360Ter | |
| XR_933134.1:n.538+5935T>A | ||
| NM_001351800.1:c.4078A>T | NP_001338729.1:p.Lys1360Ter | |
| NR_147784.1:n.4082A>T | ||
| XM_011522479.2:c.4387A>T | XP_011520781.1:p.Lys1463Ter | |
| XM_011522481.3:c.4078A>T | XP_011520783.1:p.Lys1360Ter | |
| XM_017023212.1:c.4252A>T | XP_016878701.1:p.Lys1418Ter | |
| XM_024450261.1:c.4456A>T | XP_024306029.1:p.Lys1486Ter | |
| NM_001171.6:c.4420A>T MANE Select | NP_001162.5:p.Lys1474Ter |