Linked Data
dbSNP Id:
rs754830362
ExAC:
13:29233349 A / G
gnomAD v2:
13-29233349-A-G
gnomAD v4:
13-28659212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659212A>G , CM000675.2:g.28659212A>G | GRCh38 |
| NC_000013.10:g.29233349A>G , CM000675.1:g.29233349A>G | GRCh37 |
| NC_000013.9:g.28131349A>G | NCBI36 |
| NG_027550.1:g.5209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697661.1:c.-246+25A>G | ENSP00000513386.1:n.-246+25A>G | |
| ENST00000697662.1:c.-282+25A>G | ENSP00000513387.1:n.-282+25A>G | |
| ENST00000697716.1:c.-83+25A>G | ENSP00000513414.1:n.-83+25A>G | |
| ENST00000697717.1:c.3+25A>G | ENSP00000513415.1:n.3+25A>G | |
| ENST00000697718.1:c.3+25A>G | ENSP00000513416.1:n.3+25A>G | |
| ENST00000380842.5:c.3+25A>G MANE Select | ENSP00000370222.4:n.3+25A>G | |
| ENST00000380842.4:c.3+25A>G | ENSP00000370222.4:n.3+25A>G | |
| ENST00000460403.1:n.84+25A>G | ||
| NM_015932.5:c.3+25A>G | NP_057016.1:n.3+25A>G | |
| XR_941802.1:n.18A>G | ||
| NM_015932.6:c.3+25A>G MANE Select | NP_057016.1:n.3+25A>G |