Linked Data
ClinVar Variation Id:
39192
dbSNP Id:
rs10878245
ExAC:
12:40631791 T / C
gnomAD v2:
12-40631791-T-C
gnomAD v3:
12-40237989-T-C
gnomAD v4:
12-40237989-T-C
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40237989T>C , CM000674.2:g.40237989T>C | GRCh38 |
| NC_000012.11:g.40631791T>C , CM000674.1:g.40631791T>C | GRCh37 |
| NC_000012.10:g.38918058T>C | NCBI36 |
| NG_011709.1:g.17979T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.457T>C MANE Select | ENSP00000298910.7:p.Leu153= | |
| ENST00000644108.1:c.427T>C | ||
| ENST00000679360.1:c.457T>C | ENSP00000505368.1:p.Leu153= | |
| ENST00000680235.1:n.592-58T>C | ||
| ENST00000680790.1:c.457T>C | ENSP00000505335.1:p.Leu153= | |
| ENST00000298910.11:c.457T>C | ENSP00000298910.7:p.Leu153= | |
| ENST00000343742.6:c.457T>C | ENSP00000341930.2:p.Leu153= | |
| ENST00000416796.5:c.244T>C | ENSP00000398726.1:p.Leu82= | |
| NM_198578.3:c.457T>C | NP_940980.3:p.Leu153= | |
| XM_005268629.2:c.457T>C | XP_005268686.1:p.Leu153= | |
| XM_011537877.1:c.457T>C | XP_011536179.1:p.Leu153= | |
| XM_011537878.1:c.457T>C | XP_011536180.1:p.Leu153= | |
| XM_011537880.1:c.457T>C | XP_011536182.1:p.Leu153= | |
| XM_011537881.1:c.457T>C | XP_011536183.1:p.Leu153= | |
| XM_011537882.1:c.457T>C | XP_011536184.1:p.Leu153= | |
| XM_005268629.4:c.457T>C | XP_005268686.1:p.Leu153= | |
| XM_011537877.3:c.457T>C | XP_011536179.1:p.Leu153= | |
| XM_011537881.3:c.457T>C | XP_011536183.1:p.Leu153= | |
| XM_011537882.3:c.457T>C | XP_011536184.1:p.Leu153= | |
| XM_017018786.2:c.457T>C | XP_016874275.1:p.Leu153= | |
| XM_017018789.2:c.457T>C | XP_016874278.1:p.Leu153= | |
| XR_001748574.2:n.699T>C | ||
| NM_198578.4:c.457T>C MANE Select | NP_940980.4:p.Leu153= |