Linked Data
ClinVar Variation Id:
2187018
ClinVar RCV Id:
RCV002611282
dbSNP Id:
rs530486639
gnomAD v4:
16-1362217-G-T
MyVariant Identifiers:
chr16:g.1412218G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362217G>T , CM000678.2:g.1362217G>T | GRCh38 |
| NC_000016.9:g.1412218G>T , CM000678.1:g.1412218G>T | GRCh37 |
| NC_000016.8:g.1352219G>T | NCBI36 |
| NG_016985.1:g.15319G>T | |
| NG_033129.1:g.57488C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.522G>T | ||
| ENST00000529110.2:c.507G>T | ENSP00000435349.2:p.Ala169= | |
| ENST00000529957.6:n.481G>T | ||
| ENST00000683366.1:c.*155G>T | ENSP00000507283.1:n.*155G>T | |
| ENST00000683887.1:c.471G>T | ENSP00000506886.1:p.Ala157= | |
| ENST00000684100.1:n.417G>T | ||
| ENST00000684126.1:n.481G>T | ||
| ENST00000684688.1:n.1048G>T | ||
| ENST00000204679.9:c.423G>T MANE Select | ENSP00000204679.4:p.Ala141= | |
| ENST00000204679.8:c.423G>T | ENSP00000204679.4:p.Ala141= | |
| ENST00000527076.1:n.1439G>T | ||
| ENST00000527168.5:n.459G>T | ||
| ENST00000529110.1:c.490G>T | ||
| ENST00000529957.5:n.522G>T | ||
| NM_032520.4:c.423G>T | NP_115909.1:p.Ala141= | |
| XM_017023782.1:c.471G>T | XP_016879271.1:p.Ala157= | |
| XM_017023783.1:c.63G>T | XP_016879272.1:p.Ala21= | |
| NM_032520.5:c.423G>T MANE Select | NP_115909.1:p.Ala141= |