Linked Data
ClinVar Variation Id:
45311
ClinVar RCV Id:
RCV000038475
dbSNP Id:
rs17119344
ExAC:
12:57422934 G / A
gnomAD v2:
12-57422934-G-A
gnomAD v3:
12-57029150-G-A
gnomAD v4:
12-57029150-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029150G>A , CM000674.2:g.57029150G>A | GRCh38 |
| NC_000012.11:g.57422934G>A , CM000674.1:g.57422934G>A | GRCh37 |
| NC_000012.10:g.55709201G>A | NCBI36 |
| NG_012104.1:g.25960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2987C>T MANE Select | ENSP00000300119.3:p.Thr996Ile | |
| ENST00000300119.7:c.2987C>T | ENSP00000300119.3:p.Thr996Ile | |
| ENST00000442789.6:c.2987C>T | ENSP00000393392.2:p.Thr996Ile | |
| ENST00000554234.5:c.*432C>T | ENSP00000451033.1:n.*432C>T | |
| NM_001256041.1:c.2987C>T | NP_001242970.1:p.Thr996Ile | |
| NM_005379.3:c.2987C>T | NP_005370.1:p.Thr996Ile | |
| NM_005379.4:c.2987C>T MANE Select | NP_005370.1:p.Thr996Ile | |
| NM_001256041.2:c.2987C>T | NP_001242970.1:p.Thr996Ile |