Linked Data
dbSNP Id:
rs7946599
gnomAD v2:
11-121423640-G-A
gnomAD v3:
11-121552931-G-A
gnomAD v4:
11-121552931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121552931G>A , CM000673.2:g.121552931G>A | GRCh38 |
| NC_000011.9:g.121423640G>A , CM000673.1:g.121423640G>A | GRCh37 |
| NC_000011.8:g.120928850G>A | NCBI36 |
| NG_023313.1:g.105680G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.2267-1006G>A MANE Select | ENSP00000260197.6:n.2267-1006G>A | |
| ENST00000260197.11:c.2267-1006G>A | ENSP00000260197.6:n.2267-1006G>A | |
| NM_003105.5:c.2267-1006G>A | NP_003096.1:n.2267-1006G>A | |
| XM_011542963.1:c.2267-1006G>A | XP_011541265.1:n.2267-1006G>A | |
| XM_011542964.1:c.2267-1006G>A | XP_011541266.1:n.2267-1006G>A | |
| XM_011542965.1:c.728-1006G>A | XP_011541267.1:n.728-1006G>A | |
| XM_011542963.3:c.2267-1006G>A | XP_011541265.1:n.2267-1006G>A | |
| XM_011542965.3:c.728-1006G>A | XP_011541267.1:n.728-1006G>A | |
| XM_017018169.2:c.1955-1006G>A | XP_016873658.1:n.1955-1006G>A | |
| XM_017018170.2:c.1742-1006G>A | XP_016873659.1:n.1742-1006G>A | |
| XM_017018171.1:c.2267-1006G>A | XP_016873660.1:n.2267-1006G>A | |
| XM_017018172.2:c.-282-1006G>A | XP_016873661.1:n.-282-1006G>A | |
| NM_003105.6:c.2267-1006G>A MANE Select | NP_003096.2:n.2267-1006G>A |