Linked Data
ClinVar Variation Id:
309914
ClinVar RCV Id:
RCV000841845
dbSNP Id:
rs144075028
ExAC:
12:57432759 T / C
gnomAD v2:
12-57432759-T-C
gnomAD v3:
12-57038975-T-C
gnomAD v4:
12-57038975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57038975T>C , CM000674.2:g.57038975T>C | GRCh38 |
| NC_000012.11:g.57432759T>C , CM000674.1:g.57432759T>C | GRCh37 |
| NC_000012.10:g.55719026T>C | NCBI36 |
| NG_012104.1:g.16135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.1367A>G MANE Select | ENSP00000300119.3:p.Glu456Gly | |
| ENST00000300119.7:c.1367A>G | ENSP00000300119.3:p.Glu456Gly | |
| ENST00000442789.6:c.1367A>G | ENSP00000393392.2:p.Glu456Gly | |
| ENST00000476795.1:n.264A>G | ||
| ENST00000554234.5:c.881A>G | ENSP00000451033.1:p.Glu294Gly | |
| NM_001256041.1:c.1367A>G | NP_001242970.1:p.Glu456Gly | |
| NM_005379.3:c.1367A>G | NP_005370.1:p.Glu456Gly | |
| XM_011538373.1:c.1367A>G | XP_011536675.1:p.Glu456Gly | |
| XM_011538373.2:c.1367A>G | XP_011536675.1:p.Glu456Gly | |
| NM_005379.4:c.1367A>G MANE Select | NP_005370.1:p.Glu456Gly | |
| NM_001256041.2:c.1367A>G | NP_001242970.1:p.Glu456Gly |