Linked Data
ClinVar Variation Id:
191356
ClinVar RCV Id:
RCV000201484
dbSNP Id:
rs779007169
ExAC:
16:1570178 C / T
gnomAD v2:
16-1570178-C-T
COSMIC:
COSM967354
PubMed:
PMID:26497376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1520177C>T , CM000678.2:g.1520177C>T | GRCh38 |
| NC_000016.9:g.1570178C>T , CM000678.1:g.1570178C>T | GRCh37 |
| NC_000016.8:g.1510179C>T | NCBI36 |
| NG_032783.1:g.96932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.3827G>A MANE Select | ENSP00000406012.2:p.Gly1276Glu | |
| ENST00000361339.9:c.1409G>A | ENSP00000354895.5:p.Gly470Glu | |
| ENST00000397417.6:c.*2265G>A | ENSP00000380562.2:n.*2265G>A | |
| ENST00000426508.6:c.3827G>A | ENSP00000406012.2:p.Gly1276Glu | |
| ENST00000565298.5:n.3651G>A | ||
| NM_014714.3:c.3827G>A | NP_055529.2:p.Gly1276Glu | |
| XM_006720989.2:c.3827G>A | XP_006721052.1:p.Gly1276Glu | |
| XM_006720990.2:c.3827G>A | XP_006721053.1:p.Gly1276Glu | |
| XM_006720991.2:c.3827G>A | XP_006721054.1:p.Gly1276Glu | |
| XM_006720992.2:c.1460G>A | XP_006721055.1:p.Gly487Glu | |
| XM_011522766.1:c.3581G>A | XP_011521068.1:p.Gly1194Glu | |
| XM_011522767.1:c.2852G>A | XP_011521069.1:p.Gly951Glu | |
| XM_006720990.3:c.3827G>A | XP_006721053.1:p.Gly1276Glu | |
| XM_006720991.3:c.3827G>A | XP_006721054.1:p.Gly1276Glu | |
| XM_006720992.3:c.1460G>A | XP_006721055.1:p.Gly487Glu | |
| XM_011522766.3:c.3581G>A | XP_011521068.1:p.Gly1194Glu | |
| XM_011522767.2:c.2852G>A | XP_011521069.1:p.Gly951Glu | |
| XM_017023910.1:c.3827G>A | XP_016879399.1:p.Gly1276Glu | |
| XM_017023911.1:c.2012G>A | XP_016879400.1:p.Gly671Glu | |
| NM_014714.4:c.3827G>A MANE Select | NP_055529.2:p.Gly1276Glu |