Linked Data
ClinVar Variation Id:
433337
ClinVar RCV Id:
RCV000499015
dbSNP Id:
rs63751318
gnomAD v4:
16-16154995-A-G
PubMed:
PMID:15894595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154995A>G , CM000678.2:g.16154995A>G | GRCh38 |
| NC_000016.9:g.16248852A>G , CM000678.1:g.16248852A>G | GRCh37 |
| NC_000016.8:g.16156353A>G | NCBI36 |
| NG_007558.2:g.73477T>C | |
| NG_007558.3:g.73623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.782T>C | ||
| ENST00000622290.5:c.*91T>C | ENSP00000483331.2:n.*91T>C | |
| ENST00000205557.12:c.3919T>C MANE Select | ENSP00000205557.7:p.Ser1307Pro | |
| ENST00000640696.1:c.733T>C | ENSP00000492197.1:p.Ser245Pro | |
| ENST00000205557.11:c.3919T>C | ENSP00000205557.7:p.Ser1307Pro | |
| ENST00000456970.6:c.3544T>C | ENSP00000405002.2:n.3544T>C | |
| ENST00000576204.5:n.782T>C | ||
| ENST00000622290.4:c.*1128T>C | ENSP00000483331.1:n.*1128T>C | |
| NM_001171.5:c.3919T>C | NP_001162.4:p.Ser1307Pro | |
| XM_011522479.1:c.3886T>C | XP_011520781.1:p.Ser1296Pro | |
| XM_011522480.1:c.3577T>C | XP_011520782.1:p.Ser1193Pro | |
| XM_011522481.1:c.3577T>C | XP_011520783.1:p.Ser1193Pro | |
| XR_932836.1:n.4217T>C | ||
| XR_932837.1:n.3955T>C | ||
| XR_932838.1:n.4018T>C | ||
| XR_933134.1:n.539-4786A>G | ||
| NM_001351800.1:c.3577T>C | NP_001338729.1:p.Ser1193Pro | |
| NR_147784.1:n.3581T>C | ||
| XM_011522479.2:c.3886T>C | XP_011520781.1:p.Ser1296Pro | |
| XM_011522481.3:c.3577T>C | XP_011520783.1:p.Ser1193Pro | |
| XM_017023212.1:c.3751T>C | XP_016878701.1:p.Ser1251Pro | |
| XM_024450261.1:c.3955T>C | XP_024306029.1:p.Ser1319Pro | |
| XR_932836.2:n.4163T>C | ||
| XR_932837.3:n.3900T>C | ||
| XR_932838.3:n.3963T>C | ||
| NM_001171.6:c.3919T>C MANE Select | NP_001162.5:p.Ser1307Pro |