Linked Data
ClinVar Variation Id:
39148
ClinVar RCV Id:
RCV001705621
dbSNP Id:
rs34410987
ExAC:
12:40677699 C / T
gnomAD v2:
12-40677699-C-T
gnomAD v3:
12-40283897-C-T
gnomAD v4:
12-40283897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40283897C>T , CM000674.2:g.40283897C>T | GRCh38 |
| NC_000012.11:g.40677699C>T , CM000674.1:g.40677699C>T | GRCh37 |
| NC_000012.10:g.38963966C>T | NCBI36 |
| NG_011709.1:g.63887C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.2264C>T MANE Select | ENSP00000298910.7:p.Pro755Leu | |
| ENST00000679360.1:c.*1173C>T | ENSP00000505368.1:n.*1173C>T | |
| ENST00000680790.1:c.2009C>T | ENSP00000505335.1:p.Pro670Leu | |
| ENST00000298910.11:c.2264C>T | ENSP00000298910.7:p.Pro755Leu | |
| ENST00000343742.6:c.2264C>T | ENSP00000341930.2:p.Pro755Leu | |
| ENST00000416796.5:c.1508C>T | ENSP00000398726.1:p.Pro503Leu | |
| NM_198578.3:c.2264C>T | NP_940980.3:p.Pro755Leu | |
| XM_005268629.2:c.2264C>T | XP_005268686.1:p.Pro755Leu | |
| XM_011537877.1:c.2264C>T | XP_011536179.1:p.Pro755Leu | |
| XM_011537878.1:c.2264C>T | XP_011536180.1:p.Pro755Leu | |
| XM_011537879.1:c.1061C>T | XP_011536181.1:p.Pro354Leu | |
| XM_011537880.1:c.2264C>T | XP_011536182.1:p.Pro755Leu | |
| XM_011537881.1:c.2264C>T | XP_011536183.1:p.Pro755Leu | |
| XM_011537882.1:c.2264C>T | XP_011536184.1:p.Pro755Leu | |
| XM_005268629.4:c.2264C>T | XP_005268686.1:p.Pro755Leu | |
| XM_011537877.3:c.2264C>T | XP_011536179.1:p.Pro755Leu | |
| XM_011537881.3:c.2264C>T | XP_011536183.1:p.Pro755Leu | |
| XM_011537882.3:c.2264C>T | XP_011536184.1:p.Pro755Leu | |
| XM_017018786.2:c.2264C>T | XP_016874275.1:p.Pro755Leu | |
| XM_017018789.2:c.2264C>T | XP_016874278.1:p.Pro755Leu | |
| XM_024448833.1:c.1061C>T | XP_024304601.1:p.Pro354Leu | |
| XR_001748574.2:n.2506C>T | ||
| NM_198578.4:c.2264C>T MANE Select | NP_940980.4:p.Pro755Leu |