Linked Data
dbSNP Id:
rs1041718543
gnomAD v2:
11-5255102-C-A
gnomAD v3:
11-5233872-C-A
gnomAD v4:
11-5233872-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233872C>A , CM000673.2:g.5233872C>A | GRCh38 |
| NC_000011.9:g.5255102C>A , CM000673.1:g.5255102C>A | GRCh37 |
| NC_000011.8:g.5211678C>A | NCBI36 |
| NG_000007.3:g.63744G>T | |
| NG_063112.2:g.14786G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.315+119G>T | ENSP00000494708.1:n.315+119G>T | |
| ENST00000650601.1:c.315+119G>T MANE Select | ENSP00000497529.1:n.315+119G>T | |
| ENST00000292901.7:c.315+119G>T | ENSP00000292901.3:n.315+119G>T | |
| ENST00000380299.3:c.315+119G>T | ENSP00000369654.3:n.315+119G>T | |
| ENST00000417377.1:c.92+470G>T | ENSP00000414741.1:n.92+470G>T | |
| NM_000519.3:c.315+119G>T | NP_000510.1:n.315+119G>T | |
| NM_000519.4:c.315+119G>T MANE Select | NP_000510.1:n.315+119G>T |