Linked Data
ClinVar Variation Id:
433354
ClinVar RCV Id:
RCV000499150
dbSNP Id:
rs63750700
ExAC:
16:16244629 G / T
gnomAD v2:
16-16244629-G-T
gnomAD v3:
16-16150772-G-T
gnomAD v4:
16-16150772-G-T
PubMed:
PMID:15723264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150772G>T , CM000678.2:g.16150772G>T | GRCh38 |
| NC_000016.9:g.16244629G>T , CM000678.1:g.16244629G>T | GRCh37 |
| NC_000016.8:g.16152130G>T | NCBI36 |
| NG_007558.2:g.77700C>A | |
| NG_007558.3:g.77846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*381C>A | ENSP00000483331.2:n.*381C>A | |
| ENST00000205557.12:c.4209C>A MANE Select | ENSP00000205557.7:p.Ser1403Arg | |
| ENST00000640696.1:c.1023C>A | ENSP00000492197.1:p.Ser341Arg | |
| ENST00000205557.11:c.4209C>A | ENSP00000205557.7:p.Ser1403Arg | |
| ENST00000456970.6:c.3834C>A | ENSP00000405002.2:n.3834C>A | |
| ENST00000576204.5:n.1072C>A | ||
| ENST00000622290.4:c.*1418C>A | ENSP00000483331.1:n.*1418C>A | |
| NM_001171.5:c.4209C>A | NP_001162.4:p.Ser1403Arg | |
| XM_011522479.1:c.4176C>A | XP_011520781.1:p.Ser1392Arg | |
| XM_011522480.1:c.3867C>A | XP_011520782.1:p.Ser1289Arg | |
| XM_011522481.1:c.3867C>A | XP_011520783.1:p.Ser1289Arg | |
| XR_933134.1:n.538+6482G>T | ||
| NM_001351800.1:c.3867C>A | NP_001338729.1:p.Ser1289Arg | |
| NR_147784.1:n.3871C>A | ||
| XM_011522479.2:c.4176C>A | XP_011520781.1:p.Ser1392Arg | |
| XM_011522481.3:c.3867C>A | XP_011520783.1:p.Ser1289Arg | |
| XM_017023212.1:c.4041C>A | XP_016878701.1:p.Ser1347Arg | |
| XM_024450261.1:c.4245C>A | XP_024306029.1:p.Ser1415Arg | |
| NM_001171.6:c.4209C>A MANE Select | NP_001162.5:p.Ser1403Arg |