Linked Data
ClinVar Variation Id:
960040
dbSNP Id:
rs751017354
ExAC:
16:1412857 G / A
gnomAD v2:
16-1412857-G-A
gnomAD v4:
16-1362856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362856G>A , CM000678.2:g.1362856G>A | GRCh38 |
| NC_000016.9:g.1412857G>A , CM000678.1:g.1412857G>A | GRCh37 |
| NC_000016.8:g.1352858G>A | NCBI36 |
| NG_016985.1:g.15958G>A | |
| NG_033129.1:g.56849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.872G>A | ||
| ENST00000529110.2:c.857G>A | ENSP00000435349.2:p.Arg286Lys | |
| ENST00000529957.6:n.831G>A | ||
| ENST00000683366.1:c.*505G>A | ENSP00000507283.1:n.*505G>A | |
| ENST00000683887.1:c.821G>A | ENSP00000506886.1:p.Arg274Lys | |
| ENST00000684100.1:n.767G>A | ||
| ENST00000684126.1:n.907G>A | ||
| ENST00000684688.1:n.1398G>A | ||
| ENST00000204679.9:c.773G>A MANE Select | ENSP00000204679.4:p.Arg258Lys | |
| ENST00000204679.8:c.773G>A | ENSP00000204679.4:p.Arg258Lys | |
| ENST00000527076.1:n.1996G>A | ||
| ENST00000527168.5:n.940G>A | ||
| ENST00000529957.5:n.872G>A | ||
| NM_032520.4:c.773G>A | NP_115909.1:p.Arg258Lys | |
| XM_017023782.1:c.821G>A | XP_016879271.1:p.Arg274Lys | |
| XM_017023783.1:c.413G>A | XP_016879272.1:p.Arg138Lys | |
| NM_032520.5:c.773G>A MANE Select | NP_115909.1:p.Arg258Lys |