Linked Data
dbSNP Id:
rs200743887
ExAC:
10:96702107 C / A
gnomAD v2:
10-96702107-C-A
gnomAD v3:
10-94942350-C-A
gnomAD v4:
10-94942350-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942350C>A , CM000672.2:g.94942350C>A | GRCh38 |
| NC_000010.10:g.96702107C>A , CM000672.1:g.96702107C>A | GRCh37 |
| NC_000010.9:g.96692097C>A | NCBI36 |
| NG_008385.1:g.8693C>A | |
| NG_008385.2:g.9193C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481+9C>A MANE Select | ENSP00000260682.6:n.481+9C>A | |
| ENST00000643112.1:c.481+9C>A | ENSP00000496202.1:n.481+9C>A | |
| ENST00000645207.1:n.634+9C>A | ||
| ENST00000260682.6:c.481+9C>A | ENSP00000260682.6:n.481+9C>A | |
| ENST00000461906.1:n.515C>A | ||
| ENST00000473496.1:n.252+9C>A | ||
| NM_000771.3:c.481+9C>A | NP_000762.2:n.481+9C>A | |
| NM_000771.4:c.481+9C>A MANE Select | NP_000762.2:n.481+9C>A |