Linked Data
dbSNP Id:
rs11255400
gnomAD v2:
10-7887621-G-A
gnomAD v3:
10-7845658-G-A
gnomAD v4:
10-7845658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7845658G>A , CM000672.2:g.7845658G>A | GRCh38 |
| NC_000010.10:g.7887621G>A , CM000672.1:g.7887621G>A | GRCh37 |
| NC_000010.9:g.7927627G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686593.1:c.413+21094G>A | ENSP00000509355.1:n.413+21094G>A | |
| ENST00000687522.1:c.409+21098G>A | ENSP00000508875.1:n.409+21098G>A | |
| ENST00000687671.1:n.622+21098G>A | ||
| ENST00000690066.1:n.615+21098G>A | ||
| ENST00000692164.1:n.614+21098G>A | ||
| ENST00000692339.1:n.376+21098G>A | ||
| ENST00000344293.6:c.409+21098G>A MANE Select | ENSP00000340271.5:n.409+21098G>A | |
| ENST00000344293.5:c.409+21098G>A | ENSP00000340271.5:n.409+21098G>A | |
| NM_031923.3:c.409+21098G>A | NP_114129.1:n.409+21098G>A | |
| XM_011519741.1:c.640+21098G>A | XP_011518043.1:n.640+21098G>A | |
| XM_011519742.1:c.193+21098G>A | XP_011518044.1:n.193+21098G>A | |
| XM_011519741.2:c.409+21098G>A | XP_011518043.2:n.409+21098G>A | |
| NM_031923.4:c.409+21098G>A MANE Select | NP_114129.1:n.409+21098G>A |