Linked Data
ClinVar Variation Id:
1757191
ClinVar RCV Id:
RCV002367376
gnomAD v4:
12-40363474-G-A
MyVariant Identifiers:
chr12:g.40757276G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363474G>A , CM000674.2:g.40363474G>A | GRCh38 |
| NC_000012.11:g.40757276G>A , CM000674.1:g.40757276G>A | GRCh37 |
| NC_000012.10:g.39043543G>A | NCBI36 |
| NG_011709.1:g.143464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7101G>A MANE Select | ENSP00000298910.7:p.Lys2367= | |
| ENST00000636518.1:c.898G>A | ||
| ENST00000679360.1:c.*6010G>A | ENSP00000505368.1:n.*6010G>A | |
| ENST00000679532.1:c.2875G>A | ||
| ENST00000679683.1:c.891G>A | ||
| ENST00000680018.1:c.2546G>A | ENSP00000505347.1:n.2546G>A | |
| ENST00000680422.1:c.4188G>A | ||
| ENST00000680425.1:c.2268G>A | ENSP00000506459.1:n.2268G>A | |
| ENST00000680453.1:c.2558G>A | ||
| ENST00000680790.1:c.6846G>A | ENSP00000505335.1:p.Lys2282= | |
| ENST00000681136.1:n.3085G>A | ||
| ENST00000681696.1:c.2784G>A | ENSP00000505871.1:p.Lys928= | |
| ENST00000681773.1:n.308G>A | ||
| ENST00000298910.11:c.7101G>A | ENSP00000298910.7:p.Lys2367= | |
| ENST00000430804.5:c.4397G>A | ||
| ENST00000479187.5:n.3782G>A | ||
| NM_198578.3:c.7101G>A | NP_940980.3:p.Lys2367= | |
| XM_005268629.2:c.7101G>A | XP_005268686.1:p.Lys2367= | |
| XM_011537877.1:c.7101G>A | XP_011536179.1:p.Lys2367= | |
| XM_011537879.1:c.5898G>A | XP_011536181.1:p.Lys1966= | |
| XR_944868.1:n.485-8647C>T | ||
| XM_005268629.4:c.7101G>A | XP_005268686.1:p.Lys2367= | |
| XM_011537877.3:c.7101G>A | XP_011536179.1:p.Lys2367= | |
| XM_017018787.1:c.4017G>A | XP_016874276.1:p.Lys1339= | |
| XM_017018788.2:c.3363G>A | XP_016874277.1:p.Lys1121= | |
| XM_024448833.1:c.5898G>A | XP_024304601.1:p.Lys1966= | |
| XR_944868.2:n.485-8647C>T | ||
| NM_198578.4:c.7101G>A MANE Select | NP_940980.4:p.Lys2367= |