Linked Data
ClinVar Variation Id:
2039131
dbSNP Id:
rs116091014
ExAC:
12:125453422 C / T
gnomAD v2:
12-125453422-C-T
gnomAD v3:
12-124968876-C-T
gnomAD v4:
12-124968876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124968876C>T , CM000674.2:g.124968876C>T | GRCh38 |
| NC_000012.11:g.125453422C>T , CM000674.1:g.125453422C>T | GRCh37 |
| NC_000012.10:g.124019375C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.1284G>A MANE Select | ENSP00000311135.2:p.Pro428= | |
| ENST00000544745.2:c.755G>A | ||
| ENST00000679875.1:n.1356G>A | ||
| ENST00000308736.6:c.1284G>A | ENSP00000311135.2:p.Pro428= | |
| ENST00000539298.1:n.1384G>A | ||
| ENST00000544745.1:c.645G>A | ENSP00000439009.1:p.Pro215= | |
| NM_032656.3:c.1284G>A | NP_116045.2:p.Pro428= | |
| XM_005253590.2:c.1284G>A | XP_005253647.1:p.Pro428= | |
| XM_011538597.1:c.1284G>A | XP_011536899.1:p.Pro428= | |
| XM_011538598.1:c.1284G>A | XP_011536900.1:p.Pro428= | |
| XM_011538599.1:c.1284G>A | XP_011536901.1:p.Pro428= | |
| XM_011538600.1:c.1284G>A | XP_011536902.1:p.Pro428= | |
| XM_005253590.3:c.1284G>A | XP_005253647.1:p.Pro428= | |
| XM_011538598.2:c.1284G>A | XP_011536900.1:p.Pro428= | |
| XM_011538600.2:c.1284G>A | XP_011536902.1:p.Pro428= | |
| XR_001748819.1:n.1387G>A | ||
| XR_001748820.1:n.1387G>A | ||
| NM_032656.4:c.1284G>A MANE Select | NP_116045.2:p.Pro428= |