Linked Data
ClinVar Variation Id:
881176
ClinVar RCV Id:
RCV001110022
dbSNP Id:
rs1942888332
gnomAD v4:
12-40263900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40263900G>A , CM000674.2:g.40263900G>A | GRCh38 |
| NC_000012.11:g.40657702G>A , CM000674.1:g.40657702G>A | GRCh37 |
| NC_000012.10:g.38943969G>A | NCBI36 |
| NG_011709.1:g.43890G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.1655G>A MANE Select | ENSP00000298910.7:p.Arg552Lys | |
| ENST00000679360.1:c.*564G>A | ENSP00000505368.1:n.*564G>A | |
| ENST00000680790.1:c.1400G>A | ENSP00000505335.1:p.Arg467Lys | |
| ENST00000298910.11:c.1655G>A | ENSP00000298910.7:p.Arg552Lys | |
| ENST00000343742.6:c.1655G>A | ENSP00000341930.2:p.Arg552Lys | |
| ENST00000416796.5:c.899G>A | ENSP00000398726.1:p.Arg300Lys | |
| NM_198578.3:c.1655G>A | NP_940980.3:p.Arg552Lys | |
| XM_005268629.2:c.1655G>A | XP_005268686.1:p.Arg552Lys | |
| XM_011537877.1:c.1655G>A | XP_011536179.1:p.Arg552Lys | |
| XM_011537878.1:c.1655G>A | XP_011536180.1:p.Arg552Lys | |
| XM_011537879.1:c.452G>A | XP_011536181.1:p.Arg151Lys | |
| XM_011537880.1:c.1655G>A | XP_011536182.1:p.Arg552Lys | |
| XM_011537881.1:c.1655G>A | XP_011536183.1:p.Arg552Lys | |
| XM_011537882.1:c.1655G>A | XP_011536184.1:p.Arg552Lys | |
| XM_005268629.4:c.1655G>A | XP_005268686.1:p.Arg552Lys | |
| XM_011537877.3:c.1655G>A | XP_011536179.1:p.Arg552Lys | |
| XM_011537881.3:c.1655G>A | XP_011536183.1:p.Arg552Lys | |
| XM_011537882.3:c.1655G>A | XP_011536184.1:p.Arg552Lys | |
| XM_017018786.2:c.1655G>A | XP_016874275.1:p.Arg552Lys | |
| XM_017018789.2:c.1655G>A | XP_016874278.1:p.Arg552Lys | |
| XM_024448833.1:c.452G>A | XP_024304601.1:p.Arg151Lys | |
| XR_001748574.2:n.1897G>A | ||
| NM_198578.4:c.1655G>A MANE Select | NP_940980.4:p.Arg552Lys |