Linked Data
dbSNP Id:
rs370226349
gnomAD v2:
15-41563952-G-A
gnomAD v3:
15-41271754-G-A
gnomAD v4:
15-41271754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41271754G>A , CM000677.2:g.41271754G>A | GRCh38 |
| NC_000015.9:g.41563952G>A , CM000677.1:g.41563952G>A | GRCh37 |
| NC_000015.8:g.39351244G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334660.10:c.411+1136G>A MANE Select | ENSP00000335632.5:n.411+1136G>A | |
| ENST00000334660.9:c.411+1136G>A | ENSP00000335632.5:n.411+1136G>A | |
| ENST00000392151.6:c.350-7013G>A | ENSP00000440490.1:n.350-7013G>A | |
| ENST00000558351.5:n.543+1136G>A | ||
| ENST00000560397.5:c.411+1136G>A | ENSP00000454007.1:n.411+1136G>A | |
| ENST00000560411.5:c.*176+1136G>A | ENSP00000453375.1:n.*176+1136G>A | |
| ENST00000560633.1:n.399-426G>A | ||
| ENST00000560784.5:c.*110+1136G>A | ENSP00000452772.1:n.*110+1136G>A | |
| ENST00000560965.1:c.272-426G>A | ||
| NM_007236.4:c.411+1136G>A | NP_009167.1:n.411+1136G>A | |
| NM_007236.5:c.411+1136G>A MANE Select | NP_009167.1:n.411+1136G>A |