Linked Data
dbSNP Id:
rs148331089
gnomAD v2:
11-121423571-A-G
gnomAD v3:
11-121552862-A-G
gnomAD v4:
11-121552862-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121552862A>G , CM000673.2:g.121552862A>G | GRCh38 |
| NC_000011.9:g.121423571A>G , CM000673.1:g.121423571A>G | GRCh37 |
| NC_000011.8:g.120928781A>G | NCBI36 |
| NG_023313.1:g.105611A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.2267-1075A>G MANE Select | ENSP00000260197.6:n.2267-1075A>G | |
| ENST00000260197.11:c.2267-1075A>G | ENSP00000260197.6:n.2267-1075A>G | |
| NM_003105.5:c.2267-1075A>G | NP_003096.1:n.2267-1075A>G | |
| XM_011542963.1:c.2267-1075A>G | XP_011541265.1:n.2267-1075A>G | |
| XM_011542964.1:c.2267-1075A>G | XP_011541266.1:n.2267-1075A>G | |
| XM_011542965.1:c.728-1075A>G | XP_011541267.1:n.728-1075A>G | |
| XM_011542963.3:c.2267-1075A>G | XP_011541265.1:n.2267-1075A>G | |
| XM_011542965.3:c.728-1075A>G | XP_011541267.1:n.728-1075A>G | |
| XM_017018169.2:c.1955-1075A>G | XP_016873658.1:n.1955-1075A>G | |
| XM_017018170.2:c.1742-1075A>G | XP_016873659.1:n.1742-1075A>G | |
| XM_017018171.1:c.2267-1075A>G | XP_016873660.1:n.2267-1075A>G | |
| XM_017018172.2:c.-282-1075A>G | XP_016873661.1:n.-282-1075A>G | |
| NM_003105.6:c.2267-1075A>G MANE Select | NP_003096.2:n.2267-1075A>G |