Linked Data
ClinVar Variation Id:
499788
ClinVar RCV Id:
RCV000591211
dbSNP Id:
rs147147276
ExAC:
12:57431653 C / T
gnomAD v2:
12-57431653-C-T
gnomAD v3:
12-57037869-C-T
gnomAD v4:
12-57037869-C-T
COSMIC:
COSM3772697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57037869C>T , CM000674.2:g.57037869C>T | GRCh38 |
| NC_000012.11:g.57431653C>T , CM000674.1:g.57431653C>T | GRCh37 |
| NC_000012.10:g.55717920C>T | NCBI36 |
| NG_012104.1:g.17241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.1961G>A MANE Select | ENSP00000300119.3:p.Arg654Gln | |
| ENST00000300119.7:c.1961G>A | ENSP00000300119.3:p.Arg654Gln | |
| ENST00000442789.6:c.1961G>A | ENSP00000393392.2:p.Arg654Gln | |
| ENST00000554234.5:c.1475G>A | ENSP00000451033.1:p.Arg492Gln | |
| NM_001256041.1:c.1961G>A | NP_001242970.1:p.Arg654Gln | |
| NM_005379.3:c.1961G>A | NP_005370.1:p.Arg654Gln | |
| XM_011538373.1:c.1961G>A | XP_011536675.1:p.Arg654Gln | |
| XM_011538373.2:c.1961G>A | XP_011536675.1:p.Arg654Gln | |
| NM_005379.4:c.1961G>A MANE Select | NP_005370.1:p.Arg654Gln | |
| NM_001256041.2:c.1961G>A | NP_001242970.1:p.Arg654Gln |