Linked Data
dbSNP Id:
rs6065904
gnomAD v2:
20-44534651-G-A
gnomAD v3:
20-45906012-G-A
gnomAD v4:
20-45906012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45906012G>A , CM000682.2:g.45906012G>A | GRCh38 |
| NC_000020.10:g.44534651G>A , CM000682.1:g.44534651G>A | GRCh37 |
| NC_000020.9:g.43968058G>A | NCBI36 |
| NG_012115.1:g.11136C>T | |
| NG_012115.2:g.11136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372431.8:c.705+256C>T MANE Select | ENSP00000361508.3:n.705+256C>T | |
| ENST00000354050.8:c.549+256C>T | ENSP00000335290.4:n.549+256C>T | |
| ENST00000372420.5:c.441+256C>T | ENSP00000361497.1:n.441+256C>T | |
| ENST00000372431.7:c.705+256C>T | ENSP00000361508.3:n.705+256C>T | |
| ENST00000420868.2:c.420+256C>T | ENSP00000411671.2:n.420+256C>T | |
| ENST00000477313.5:c.705+256C>T | ENSP00000417138.1:n.705+256C>T | |
| NM_001242920.1:c.420+256C>T | NP_001229849.1:n.420+256C>T | |
| NM_001242921.1:c.441+256C>T | NP_001229850.1:n.441+256C>T | |
| NM_006227.3:c.705+256C>T | NP_006218.1:n.705+256C>T | |
| NM_182676.2:c.549+256C>T | NP_872617.1:n.549+256C>T | |
| NM_006227.4:c.705+256C>T MANE Select | NP_006218.1:n.705+256C>T | |
| NM_001242920.2:c.420+256C>T | NP_001229849.1:n.420+256C>T | |
| NM_182676.3:c.549+256C>T | NP_872617.1:n.549+256C>T |