Linked Data
dbSNP Id:
rs12800734
gnomAD v2:
11-120836754-G-A
gnomAD v3:
11-120966045-G-A
gnomAD v4:
11-120966045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120966045G>A , CM000673.2:g.120966045G>A | GRCh38 |
| NC_000011.9:g.120836754G>A , CM000673.1:g.120836754G>A | GRCh37 |
| NC_000011.8:g.120341964G>A | NCBI36 |
| NG_042194.1:g.459300G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527524.8:c.2267-1150G>A MANE Select | ENSP00000435648.2:n.2267-1150G>A | |
| ENST00000638419.1:c.2267-1150G>A | ENSP00000492086.1:n.2267-1150G>A | |
| ENST00000438375.2:c.2267-1150G>A | ENSP00000404063.2:n.2267-1150G>A | |
| ENST00000527524.6:c.2267-1150G>A | ENSP00000435648.1:n.2267-1150G>A | |
| NM_001282470.2:c.2267-1150G>A | NP_001269399.1:n.2267-1150G>A | |
| NM_014619.4:c.2267-1150G>A | NP_055434.2:n.2267-1150G>A | |
| XM_011542783.1:c.2483-1150G>A | XP_011541085.1:n.2483-1150G>A | |
| XM_011542784.1:c.2105-1150G>A | XP_011541086.1:n.2105-1150G>A | |
| XM_011542785.1:c.2483-1150G>A | XP_011541087.1:n.2483-1150G>A | |
| XM_011542786.1:c.1541-1150G>A | XP_011541088.1:n.1541-1150G>A | |
| XM_011542787.1:c.1505-1150G>A | XP_011541089.1:n.1505-1150G>A | |
| XM_011542788.1:c.1505-1150G>A | XP_011541090.1:n.1505-1150G>A | |
| XM_011542784.2:c.2105-1150G>A | XP_011541086.1:n.2105-1150G>A | |
| XM_011542786.2:c.1541-1150G>A | XP_011541088.1:n.1541-1150G>A | |
| XM_011542787.2:c.1505-1150G>A | XP_011541089.1:n.1505-1150G>A | |
| XM_017017621.2:c.2093-1150G>A | XP_016873110.1:n.2093-1150G>A | |
| XM_017017622.2:c.2063-1150G>A | XP_016873111.1:n.2063-1150G>A | |
| NM_014619.5:c.2267-1150G>A MANE Select | NP_055434.2:n.2267-1150G>A | |
| NM_001282470.3:c.2267-1150G>A | NP_001269399.1:n.2267-1150G>A |