Linked Data
ClinVar Variation Id:
319646
dbSNP Id:
rs759935029
ExAC:
16:53636054 T / C
gnomAD v2:
16-53636054-T-C
gnomAD v3:
16-53602142-T-C
gnomAD v4:
16-53602142-T-C
COSMIC:
COSM5342797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53602142T>C , CM000678.2:g.53602142T>C | GRCh38 |
| NC_000016.9:g.53636054T>C , CM000678.1:g.53636054T>C | GRCh37 |
| NC_000016.8:g.52193555T>C | NCBI36 |
| NG_008991.2:g.106718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3642A>G | ENSP00000262135.4:p.Val1214= | |
| ENST00000565343.2:n.4306A>G | ||
| ENST00000621565.5:c.3744A>G | ENSP00000480698.1:p.Val1248= | |
| ENST00000647211.2:c.3882A>G MANE Select | ENSP00000493946.1:p.Val1294= | |
| ENST00000680193.1:c.*642A>G | ENSP00000506379.1:n.*642A>G | |
| ENST00000681587.1:n.1654A>G | ||
| ENST00000262135.8:c.3642A>G | ENSP00000262135.4:p.Val1214= | |
| ENST00000379925.7:c.3882A>G | ENSP00000369257.3:p.Val1294= | |
| ENST00000563746.5:c.3780A>G | ENSP00000457889.1:p.Val1260= | |
| ENST00000621565.4:c.3744A>G | ENSP00000480698.1:p.Val1248= | |
| NM_001127897.1:c.3642A>G | NP_001121369.1:p.Val1214= | |
| NM_001127897.2:c.3642A>G | NP_001121369.1:p.Val1214= | |
| NM_001308334.1:c.3744A>G | NP_001295263.1:p.Val1248= | |
| NM_015272.2:c.3882A>G | NP_056087.2:p.Val1294= | |
| NM_015272.3:c.3882A>G | NP_056087.2:p.Val1294= | |
| XM_005255867.1:c.3780A>G | XP_005255924.1:p.Val1260= | |
| XM_005255868.1:c.3756A>G | XP_005255925.1:p.Val1252= | |
| XM_005255871.2:c.1989A>G | XP_005255928.1:p.Val663= | |
| XM_011522968.1:c.3882A>G | XP_011521270.1:p.Val1294= | |
| XM_011522974.1:c.1989A>G | XP_011521276.1:p.Val663= | |
| NM_001127897.3:c.3642A>G | NP_001121369.1:p.Val1214= | |
| NM_001308334.2:c.3744A>G | NP_001295263.1:p.Val1248= | |
| NM_001330538.1:c.3780A>G | NP_001317467.1:p.Val1260= | |
| NM_015272.4:c.3882A>G | NP_056087.2:p.Val1294= | |
| XM_005255868.2:c.3756A>G | XP_005255925.1:p.Val1252= | |
| XM_017023094.2:c.3894A>G | XP_016878583.1:p.Val1298= | |
| XM_017023095.2:c.3654A>G | XP_016878584.1:p.Val1218= | |
| XM_017023098.1:c.2127A>G | XP_016878587.1:p.Val709= | |
| XM_017023099.1:c.2127A>G | XP_016878588.1:p.Val709= | |
| NM_015272.5:c.3882A>G MANE Select | NP_056087.2:p.Val1294= | |
| NM_001127897.4:c.3642A>G | NP_001121369.1:p.Val1214= | |
| NM_001330538.2:c.3780A>G | NP_001317467.1:p.Val1260= | |
| NM_001308334.3:c.3744A>G | NP_001295263.1:p.Val1248= |