Linked Data
ClinVar Variation Id:
2695747
ClinVar RCV Id:
RCV003542261
dbSNP Id:
rs1311440666
gnomAD v2:
16-1412051-G-A
gnomAD v3:
16-1362050-G-A
gnomAD v4:
16-1362050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362050G>A , CM000678.2:g.1362050G>A | GRCh38 |
| NC_000016.9:g.1412051G>A , CM000678.1:g.1412051G>A | GRCh37 |
| NC_000016.8:g.1352052G>A | NCBI36 |
| NG_016985.1:g.15152G>A | |
| NG_033129.1:g.57655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.429G>A | ||
| ENST00000529110.2:c.414G>A | ENSP00000435349.2:p.Glu138= | |
| ENST00000529957.6:n.388G>A | ||
| ENST00000683366.1:c.*62G>A | ENSP00000507283.1:n.*62G>A | |
| ENST00000683887.1:c.378G>A | ENSP00000506886.1:p.Glu126= | |
| ENST00000684100.1:n.324G>A | ||
| ENST00000684126.1:n.388G>A | ||
| ENST00000684688.1:n.955G>A | ||
| ENST00000204679.9:c.330G>A MANE Select | ENSP00000204679.4:p.Glu110= | |
| ENST00000204679.8:c.330G>A | ENSP00000204679.4:p.Glu110= | |
| ENST00000526820.5:c.*232G>A | ENSP00000434413.1:n.*232G>A | |
| ENST00000527076.1:n.1346G>A | ||
| ENST00000527168.5:n.366G>A | ||
| ENST00000529110.1:c.397G>A | ||
| ENST00000529957.5:n.429G>A | ||
| NM_032520.4:c.330G>A | NP_115909.1:p.Glu110= | |
| XM_017023782.1:c.378G>A | XP_016879271.1:p.Glu126= | |
| XM_017023783.1:c.-31G>A | XP_016879272.1:n.-31G>A | |
| NM_032520.5:c.330G>A MANE Select | NP_115909.1:p.Glu110= |