Linked Data
ClinVar Variation Id:
217694
dbSNP Id:
rs778533826
ExAC:
16:53653024 G / A
gnomAD v2:
16-53653024-G-A
gnomAD v4:
16-53619112-G-A
COSMIC:
COSM971482
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53619112G>A , CM000678.2:g.53619112G>A | GRCh38 |
| NC_000016.9:g.53653024G>A , CM000678.1:g.53653024G>A | GRCh37 |
| NC_000016.8:g.52210525G>A | NCBI36 |
| NG_008991.2:g.89748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3289C>T | ENSP00000262135.4:p.Arg1097Ter | |
| ENST00000565343.2:n.3953C>T | ||
| ENST00000621565.5:c.3391C>T | ENSP00000480698.1:p.Arg1131Ter | |
| ENST00000647211.2:c.3529C>T MANE Select | ENSP00000493946.1:p.Arg1177Ter | |
| ENST00000680193.1:c.*289C>T | ENSP00000506379.1:n.*289C>T | |
| ENST00000681587.1:n.1301C>T | ||
| ENST00000262135.8:c.3289C>T | ENSP00000262135.4:p.Arg1097Ter | |
| ENST00000379925.7:c.3529C>T | ENSP00000369257.3:p.Arg1177Ter | |
| ENST00000563746.5:c.3427C>T | ENSP00000457889.1:p.Arg1143Ter | |
| ENST00000564374.5:c.3391C>T | ENSP00000456534.1:p.Arg1131Ter | |
| ENST00000621565.4:c.3391C>T | ENSP00000480698.1:p.Arg1131Ter | |
| NM_001127897.1:c.3289C>T | NP_001121369.1:p.Arg1097Ter | |
| NM_001127897.2:c.3289C>T | NP_001121369.1:p.Arg1097Ter | |
| NM_001308334.1:c.3391C>T | NP_001295263.1:p.Arg1131Ter | |
| NM_015272.2:c.3529C>T | NP_056087.2:p.Arg1177Ter | |
| NM_015272.3:c.3529C>T | NP_056087.2:p.Arg1177Ter | |
| XM_005255867.1:c.3427C>T | XP_005255924.1:p.Arg1143Ter | |
| XM_005255868.1:c.3403C>T | XP_005255925.1:p.Arg1135Ter | |
| XM_005255871.2:c.1636C>T | XP_005255928.1:p.Arg546Ter | |
| XM_011522968.1:c.3529C>T | XP_011521270.1:p.Arg1177Ter | |
| XM_011522969.1:c.3403C>T | XP_011521271.1:p.Arg1135Ter | |
| XM_011522974.1:c.1636C>T | XP_011521276.1:p.Arg546Ter | |
| XR_933260.1:n.3435C>T | ||
| NM_001127897.3:c.3289C>T | NP_001121369.1:p.Arg1097Ter | |
| NM_001308334.2:c.3391C>T | NP_001295263.1:p.Arg1131Ter | |
| NM_001330538.1:c.3427C>T | NP_001317467.1:p.Arg1143Ter | |
| NM_015272.4:c.3529C>T | NP_056087.2:p.Arg1177Ter | |
| XM_005255868.2:c.3403C>T | XP_005255925.1:p.Arg1135Ter | |
| XM_017023094.2:c.3541C>T | XP_016878583.1:p.Arg1181Ter | |
| XM_017023095.2:c.3301C>T | XP_016878584.1:p.Arg1101Ter | |
| XM_017023096.2:c.3403C>T | XP_016878585.1:p.Arg1135Ter | |
| XM_017023098.1:c.1774C>T | XP_016878587.1:p.Arg592Ter | |
| XM_017023099.1:c.1774C>T | XP_016878588.1:p.Arg592Ter | |
| XR_933260.3:n.3446C>T | ||
| NM_015272.5:c.3529C>T MANE Select | NP_056087.2:p.Arg1177Ter | |
| NM_001127897.4:c.3289C>T | NP_001121369.1:p.Arg1097Ter | |
| NM_001330538.2:c.3427C>T | NP_001317467.1:p.Arg1143Ter | |
| NM_001308334.3:c.3391C>T | NP_001295263.1:p.Arg1131Ter |