Linked Data
ClinVar Variation Id:
1399781
ClinVar RCV Id:
RCV001917856
dbSNP Id:
rs773331398
ExAC:
16:1412826 G / T
gnomAD v2:
16-1412826-G-T
gnomAD v4:
16-1362825-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362825G>T , CM000678.2:g.1362825G>T | GRCh38 |
| NC_000016.9:g.1412826G>T , CM000678.1:g.1412826G>T | GRCh37 |
| NC_000016.8:g.1352827G>T | NCBI36 |
| NG_016985.1:g.15927G>T | |
| NG_033129.1:g.56880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.841G>T | ||
| ENST00000529110.2:c.826G>T | ENSP00000435349.2:p.Ala276Ser | |
| ENST00000529957.6:n.800G>T | ||
| ENST00000683366.1:c.*474G>T | ENSP00000507283.1:n.*474G>T | |
| ENST00000683887.1:c.790G>T | ENSP00000506886.1:p.Ala264Ser | |
| ENST00000684100.1:n.736G>T | ||
| ENST00000684126.1:n.876G>T | ||
| ENST00000684688.1:n.1367G>T | ||
| ENST00000204679.9:c.742G>T MANE Select | ENSP00000204679.4:p.Ala248Ser | |
| ENST00000204679.8:c.742G>T | ENSP00000204679.4:p.Ala248Ser | |
| ENST00000527076.1:n.1965G>T | ||
| ENST00000527168.5:n.909G>T | ||
| ENST00000529957.5:n.841G>T | ||
| NM_032520.4:c.742G>T | NP_115909.1:p.Ala248Ser | |
| XM_017023782.1:c.790G>T | XP_016879271.1:p.Ala264Ser | |
| XM_017023783.1:c.382G>T | XP_016879272.1:p.Ala128Ser | |
| NM_032520.5:c.742G>T MANE Select | NP_115909.1:p.Ala248Ser |