Linked Data
ClinVar Variation Id:
8149
ClinVar RCV Id:
RCV000008626
dbSNP Id:
rs61753849
ExAC:
12:57435225 C / A
gnomAD v2:
12-57435225-C-A
gnomAD v3:
12-57041441-C-A
gnomAD v4:
12-57041441-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57041441C>A , CM000674.2:g.57041441C>A | GRCh38 |
| NC_000012.11:g.57435225C>A , CM000674.1:g.57435225C>A | GRCh37 |
| NC_000012.10:g.55721492C>A | NCBI36 |
| NG_012104.1:g.13669G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300119.8:c.1155G>T MANE Select | ENSP00000300119.3:p.Glu385Asp | |
| ENST00000300119.7:c.1155G>T | ENSP00000300119.3:p.Glu385Asp | |
| ENST00000442789.6:c.1155G>T | ENSP00000393392.2:p.Glu385Asp | |
| ENST00000554234.5:c.669G>T | ENSP00000451033.1:p.Glu223Asp | |
| NM_001256041.1:c.1155G>T | NP_001242970.1:p.Glu385Asp | |
| NM_005379.3:c.1155G>T | NP_005370.1:p.Glu385Asp | |
| XM_011538373.1:c.1155G>T | XP_011536675.1:p.Glu385Asp | |
| XM_011538373.2:c.1155G>T | XP_011536675.1:p.Glu385Asp | |
| NM_005379.4:c.1155G>T MANE Select | NP_005370.1:p.Glu385Asp | |
| NM_001256041.2:c.1155G>T | NP_001242970.1:p.Glu385Asp |