Linked Data
dbSNP Id:
rs10136789
gnomAD v2:
14-63356253-T-C
gnomAD v3:
14-62889535-T-C
gnomAD v4:
14-62889535-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62889535T>C , CM000676.2:g.62889535T>C | GRCh38 |
| NC_000014.8:g.63356253T>C , CM000676.1:g.63356253T>C | GRCh37 |
| NC_000014.7:g.62426006T>C | NCBI36 |
| NG_034062.1:g.160704A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322893.12:c.1370-39683A>G MANE Select | ENSP00000321427.7:n.1370-39683A>G | |
| ENST00000322893.11:c.1370-39683A>G | ENSP00000321427.7:n.1370-39683A>G | |
| ENST00000394968.2:c.1196-39683A>G | ENSP00000378419.1:n.1196-39683A>G | |
| ENST00000420622.6:c.1370-39683A>G | ENSP00000395439.2:n.1370-39683A>G | |
| NM_139318.4:c.1370-39683A>G | NP_647479.2:n.1370-39683A>G | |
| NM_172375.2:c.1370-39683A>G | NP_758963.1:n.1370-39683A>G | |
| XM_011536658.1:c.1370-39683A>G | XP_011534960.1:n.1370-39683A>G | |
| NM_139318.5:c.1370-39683A>G MANE Select | NP_647479.2:n.1370-39683A>G | |
| NM_172375.3:c.1370-39683A>G | NP_758963.1:n.1370-39683A>G |