Linked Data
ClinVar Variation Id:
1756969
ClinVar RCV Id:
RCV002365060
dbSNP Id:
rs1432579012
gnomAD v2:
12-40757240-A-G
gnomAD v4:
12-40363438-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363438A>G , CM000674.2:g.40363438A>G | GRCh38 |
| NC_000012.11:g.40757240A>G , CM000674.1:g.40757240A>G | GRCh37 |
| NC_000012.10:g.39043507A>G | NCBI36 |
| NG_011709.1:g.143428A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.7065A>G MANE Select | ENSP00000298910.7:p.Ile2355Met | |
| ENST00000636518.1:c.862A>G | ||
| ENST00000679360.1:c.*5974A>G | ENSP00000505368.1:n.*5974A>G | |
| ENST00000679532.1:c.2839A>G | ||
| ENST00000679683.1:c.855A>G | ||
| ENST00000680018.1:c.2510A>G | ENSP00000505347.1:n.2510A>G | |
| ENST00000680422.1:c.4152A>G | ||
| ENST00000680425.1:c.2232A>G | ENSP00000506459.1:n.2232A>G | |
| ENST00000680453.1:c.2522A>G | ||
| ENST00000680790.1:c.6810A>G | ENSP00000505335.1:p.Ile2270Met | |
| ENST00000681136.1:n.3049A>G | ||
| ENST00000681696.1:c.2748A>G | ENSP00000505871.1:p.Ile916Met | |
| ENST00000681773.1:n.272A>G | ||
| ENST00000298910.11:c.7065A>G | ENSP00000298910.7:p.Ile2355Met | |
| ENST00000430804.5:c.4361A>G | ||
| ENST00000479187.5:n.3746A>G | ||
| NM_198578.3:c.7065A>G | NP_940980.3:p.Ile2355Met | |
| XM_005268629.2:c.7065A>G | XP_005268686.1:p.Ile2355Met | |
| XM_011537877.1:c.7065A>G | XP_011536179.1:p.Ile2355Met | |
| XM_011537879.1:c.5862A>G | XP_011536181.1:p.Ile1954Met | |
| XR_944868.1:n.485-8611T>C | ||
| XM_005268629.4:c.7065A>G | XP_005268686.1:p.Ile2355Met | |
| XM_011537877.3:c.7065A>G | XP_011536179.1:p.Ile2355Met | |
| XM_017018787.1:c.3981A>G | XP_016874276.1:p.Ile1327Met | |
| XM_017018788.2:c.3327A>G | XP_016874277.1:p.Ile1109Met | |
| XM_024448833.1:c.5862A>G | XP_024304601.1:p.Ile1954Met | |
| XR_944868.2:n.485-8611T>C | ||
| NM_198578.4:c.7065A>G MANE Select | NP_940980.4:p.Ile2355Met |