Linked Data
ClinVar Variation Id:
45309
ClinVar RCV Id:
RCV000038473
dbSNP Id:
rs143613424
ExAC:
12:57430138 G / A
gnomAD v2:
12-57430138-G-A
gnomAD v3:
12-57036354-G-A
gnomAD v4:
12-57036354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57036354G>A , CM000674.2:g.57036354G>A | GRCh38 |
| NC_000012.11:g.57430138G>A , CM000674.1:g.57430138G>A | GRCh37 |
| NC_000012.10:g.55716405G>A | NCBI36 |
| NG_012104.1:g.18756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2302C>T MANE Select | ENSP00000300119.3:p.Arg768Trp | |
| ENST00000300119.7:c.2302C>T | ENSP00000300119.3:p.Arg768Trp | |
| ENST00000442789.6:c.2302C>T | ENSP00000393392.2:p.Arg768Trp | |
| ENST00000554234.5:c.1816C>T | ENSP00000451033.1:p.Arg606Trp | |
| NM_001256041.1:c.2302C>T | NP_001242970.1:p.Arg768Trp | |
| NM_005379.3:c.2302C>T | NP_005370.1:p.Arg768Trp | |
| XM_011538373.1:c.2302C>T | XP_011536675.1:p.Arg768Trp | |
| XM_011538373.2:c.2302C>T | XP_011536675.1:p.Arg768Trp | |
| NM_005379.4:c.2302C>T MANE Select | NP_005370.1:p.Arg768Trp | |
| NM_001256041.2:c.2302C>T | NP_001242970.1:p.Arg768Trp |