Linked Data
dbSNP Id:
rs187646134
gnomAD v2:
11-5275312-T-C
gnomAD v3:
11-5254082-T-C
gnomAD v4:
11-5254082-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254082T>C , CM000673.2:g.5254082T>C | GRCh38 |
| NC_000011.9:g.5275312T>C , CM000673.1:g.5275312T>C | GRCh37 |
| NC_000011.8:g.5231888T>C | NCBI36 |
| NG_000007.3:g.43534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.315+210A>G MANE Select | ENSP00000338082.4:n.315+210A>G | |
| ENST00000380252.6:c.150+210A>G | ENSP00000369602.2:n.150+210A>G | |
| ENST00000642908.1:c.315+210A>G | ENSP00000495346.1:n.315+210A>G | |
| ENST00000647543.1:c.315+210A>G | ENSP00000496470.1:n.315+210A>G | |
| ENST00000336906.4:c.315+210A>G | ENSP00000338082.4:n.315+210A>G | |
| ENST00000380252.5:c.285+210A>G | ENSP00000369602.1:n.285+210A>G | |
| ENST00000380259.6:c.315+210A>G | ENSP00000369609.2:n.315+210A>G | |
| ENST00000444587.1:c.*184+210A>G | ENSP00000488218.1:n.*184+210A>G | |
| ENST00000620888.4:c.315+210A>G | ENSP00000479637.1:n.315+210A>G | |
| ENST00000624109.1:c.43-213T>C | ENSP00000485458.1:n.43-213T>C | |
| NM_000184.2:c.315+210A>G | NP_000175.1:n.315+210A>G | |
| NM_000184.3:c.315+210A>G MANE Select | NP_000175.1:n.315+210A>G |