Linked Data
dbSNP Id:
rs1264435931
gnomAD v2:
10-96702329-A-G
gnomAD v3:
10-94942572-A-G
gnomAD v4:
10-94942572-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942572A>G , CM000672.2:g.94942572A>G | GRCh38 |
| NC_000010.10:g.96702329A>G , CM000672.1:g.96702329A>G | GRCh37 |
| NC_000010.9:g.96692319A>G | NCBI36 |
| NG_008385.1:g.8915A>G | |
| NG_008385.2:g.9415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481+231A>G MANE Select | ENSP00000260682.6:n.481+231A>G | |
| ENST00000643112.1:c.481+231A>G | ENSP00000496202.1:n.481+231A>G | |
| ENST00000645207.1:n.634+231A>G | ||
| ENST00000260682.6:c.481+231A>G | ENSP00000260682.6:n.481+231A>G | |
| ENST00000461906.1:n.737A>G | ||
| ENST00000473496.1:n.252+231A>G | ||
| NM_000771.3:c.481+231A>G | NP_000762.2:n.481+231A>G | |
| NM_000771.4:c.481+231A>G MANE Select | NP_000762.2:n.481+231A>G |