Linked Data
ClinVar Variation Id:
2164810
ClinVar RCV Id:
RCV003088225
dbSNP Id:
rs201614703
gnomAD v2:
12-40745422-A-T
gnomAD v3:
12-40351620-A-T
gnomAD v4:
12-40351620-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40351620A>T , CM000674.2:g.40351620A>T | GRCh38 |
| NC_000012.11:g.40745422A>T , CM000674.1:g.40745422A>T | GRCh37 |
| NC_000012.10:g.39031689A>T | NCBI36 |
| NG_011709.1:g.131610A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.6463A>T MANE Select | ENSP00000298910.7:p.Met2155Leu | |
| ENST00000636518.1:c.260A>T | ||
| ENST00000679360.1:c.*5372A>T | ENSP00000505368.1:n.*5372A>T | |
| ENST00000679532.1:c.2237A>T | ||
| ENST00000679683.1:c.253A>T | ||
| ENST00000680018.1:c.1908A>T | ENSP00000505347.1:n.1908A>T | |
| ENST00000680422.1:c.2108A>T | ||
| ENST00000680425.1:c.1630A>T | ENSP00000506459.1:n.1630A>T | |
| ENST00000680453.1:c.1920A>T | ||
| ENST00000680790.1:c.6208A>T | ENSP00000505335.1:p.Met2070Leu | |
| ENST00000681136.1:n.2447A>T | ||
| ENST00000681696.1:c.2146A>T | ENSP00000505871.1:p.Met716Leu | |
| ENST00000298910.11:c.6463A>T | ENSP00000298910.7:p.Met2155Leu | |
| ENST00000430804.5:c.3759A>T | ||
| ENST00000479187.5:n.3144A>T | ||
| NM_198578.3:c.6463A>T | NP_940980.3:p.Met2155Leu | |
| XM_005268629.2:c.6463A>T | XP_005268686.1:p.Met2155Leu | |
| XM_011537877.1:c.6463A>T | XP_011536179.1:p.Met2155Leu | |
| XM_011537878.1:c.6463A>T | XP_011536180.1:p.Met2155Leu | |
| XM_011537879.1:c.5260A>T | XP_011536181.1:p.Met1754Leu | |
| XM_005268629.4:c.6463A>T | XP_005268686.1:p.Met2155Leu | |
| XM_011537877.3:c.6463A>T | XP_011536179.1:p.Met2155Leu | |
| XM_017018787.1:c.3379A>T | XP_016874276.1:p.Met1127Leu | |
| XM_017018788.2:c.2725A>T | XP_016874277.1:p.Met909Leu | |
| XM_024448833.1:c.5260A>T | XP_024304601.1:p.Met1754Leu | |
| NM_198578.4:c.6463A>T MANE Select | NP_940980.4:p.Met2155Leu |