Linked Data
ClinVar Variation Id:
433346
ClinVar RCV Id:
RCV000499330
dbSNP Id:
rs63751112
gnomAD v3:
16-16154878-G-A
gnomAD v4:
16-16154878-G-A
PubMed:
PMID:15459974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154878G>A , CM000678.2:g.16154878G>A | GRCh38 |
| NC_000016.9:g.16248735G>A , CM000678.1:g.16248735G>A | GRCh37 |
| NC_000016.8:g.16156236G>A | NCBI36 |
| NG_007558.2:g.73594C>T | |
| NG_007558.3:g.73740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.899C>T | ||
| ENST00000622290.5:c.*208C>T | ENSP00000483331.2:n.*208C>T | |
| ENST00000205557.12:c.4036C>T MANE Select | ENSP00000205557.7:p.Pro1346Ser | |
| ENST00000640696.1:c.850C>T | ENSP00000492197.1:p.Pro284Ser | |
| ENST00000205557.11:c.4036C>T | ENSP00000205557.7:p.Pro1346Ser | |
| ENST00000456970.6:c.3661C>T | ENSP00000405002.2:n.3661C>T | |
| ENST00000576204.5:n.899C>T | ||
| ENST00000622290.4:c.*1245C>T | ENSP00000483331.1:n.*1245C>T | |
| NM_001171.5:c.4036C>T | NP_001162.4:p.Pro1346Ser | |
| XM_011522479.1:c.4003C>T | XP_011520781.1:p.Pro1335Ser | |
| XM_011522480.1:c.3694C>T | XP_011520782.1:p.Pro1232Ser | |
| XM_011522481.1:c.3694C>T | XP_011520783.1:p.Pro1232Ser | |
| XR_933134.1:n.539-4903G>A | ||
| NM_001351800.1:c.3694C>T | NP_001338729.1:p.Pro1232Ser | |
| NR_147784.1:n.3698C>T | ||
| XM_011522479.2:c.4003C>T | XP_011520781.1:p.Pro1335Ser | |
| XM_011522481.3:c.3694C>T | XP_011520783.1:p.Pro1232Ser | |
| XM_017023212.1:c.3868C>T | XP_016878701.1:p.Pro1290Ser | |
| XM_024450261.1:c.4072C>T | XP_024306029.1:p.Pro1358Ser | |
| NM_001171.6:c.4036C>T MANE Select | NP_001162.5:p.Pro1346Ser |