Linked Data
dbSNP Id:
rs773101148
ExAC:
10:96702113 T / G
gnomAD v2:
10-96702113-T-G
gnomAD v4:
10-94942356-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942356T>G , CM000672.2:g.94942356T>G | GRCh38 |
| NC_000010.10:g.96702113T>G , CM000672.1:g.96702113T>G | GRCh37 |
| NC_000010.9:g.96692103T>G | NCBI36 |
| NG_008385.1:g.8699T>G | |
| NG_008385.2:g.9199T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481+15T>G MANE Select | ENSP00000260682.6:n.481+15T>G | |
| ENST00000643112.1:c.481+15T>G | ENSP00000496202.1:n.481+15T>G | |
| ENST00000645207.1:n.634+15T>G | ||
| ENST00000260682.6:c.481+15T>G | ENSP00000260682.6:n.481+15T>G | |
| ENST00000461906.1:n.521T>G | ||
| ENST00000473496.1:n.252+15T>G | ||
| NM_000771.3:c.481+15T>G | NP_000762.2:n.481+15T>G | |
| NM_000771.4:c.481+15T>G MANE Select | NP_000762.2:n.481+15T>G |