Linked Data
dbSNP Id:
rs28374715
gnomAD v2:
15-41563950-A-G
gnomAD v3:
15-41271752-A-G
gnomAD v4:
15-41271752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41271752A>G , CM000677.2:g.41271752A>G | GRCh38 |
| NC_000015.9:g.41563950A>G , CM000677.1:g.41563950A>G | GRCh37 |
| NC_000015.8:g.39351242A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334660.10:c.411+1134A>G MANE Select | ENSP00000335632.5:n.411+1134A>G | |
| ENST00000334660.9:c.411+1134A>G | ENSP00000335632.5:n.411+1134A>G | |
| ENST00000392151.6:c.350-7015A>G | ENSP00000440490.1:n.350-7015A>G | |
| ENST00000558351.5:n.543+1134A>G | ||
| ENST00000560397.5:c.411+1134A>G | ENSP00000454007.1:n.411+1134A>G | |
| ENST00000560411.5:c.*176+1134A>G | ENSP00000453375.1:n.*176+1134A>G | |
| ENST00000560633.1:n.399-428A>G | ||
| ENST00000560784.5:c.*110+1134A>G | ENSP00000452772.1:n.*110+1134A>G | |
| ENST00000560965.1:c.272-428A>G | ||
| NM_007236.4:c.411+1134A>G | NP_009167.1:n.411+1134A>G | |
| NM_007236.5:c.411+1134A>G MANE Select | NP_009167.1:n.411+1134A>G |