Linked Data
dbSNP Id:
rs1001382865
gnomAD v2:
11-63974773-G-A
gnomAD v3:
11-64207301-G-A
gnomAD v4:
11-64207301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64207301G>A , CM000673.2:g.64207301G>A | GRCh38 |
| NC_000011.9:g.63974773G>A , CM000673.1:g.63974773G>A | GRCh37 |
| NC_000011.8:g.63731349G>A | NCBI36 |
| NG_016360.1:g.5622G>A , LRG_180:g.5622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.-14-50G>A | ENSP00000279227.5:n.-14-50G>A | |
| ENST00000544997.6:c.-11-53G>A | ENSP00000445778.2:n.-11-53G>A | |
| ENST00000546255.2:n.84-53G>A | ||
| ENST00000698845.1:c.-11-53G>A | ENSP00000513981.1:n.-11-53G>A | |
| ENST00000698846.1:n.124-50G>A | ||
| ENST00000698847.1:c.-14-50G>A | ENSP00000513982.1:n.-14-50G>A | |
| ENST00000698852.1:c.-64G>A | ENSP00000513984.1:n.-64G>A | |
| ENST00000698853.1:c.-14-50G>A | ENSP00000513985.1:n.-14-50G>A | |
| ENST00000698854.1:c.-14-50G>A | ENSP00000513986.1:n.-14-50G>A | |
| ENST00000698859.1:n.151-50G>A | ||
| ENST00000698860.1:c.-11-53G>A | ENSP00000513988.1:n.-11-53G>A | |
| ENST00000698861.1:c.-8-56G>A | ENSP00000513989.1:n.-8-56G>A | |
| ENST00000698862.1:c.-14-50G>A | ENSP00000513990.1:n.-14-50G>A | |
| ENST00000698863.1:c.-64G>A | ENSP00000513991.1:n.-64G>A | |
| ENST00000698864.1:n.93-50G>A | ||
| ENST00000698865.1:c.-14-50G>A | ENSP00000513992.1:n.-14-50G>A | |
| ENST00000698866.1:c.-14-50G>A | ENSP00000513993.1:n.-14-50G>A | |
| ENST00000698867.1:n.560G>A | ||
| ENST00000698868.1:c.-14-50G>A | ENSP00000513994.1:n.-14-50G>A | |
| ENST00000698869.1:c.-14-50G>A | ENSP00000513995.1:n.-14-50G>A | |
| ENST00000698870.1:c.-64G>A | ENSP00000513996.1:n.-64G>A | |
| ENST00000698871.1:n.194G>A | ||
| ENST00000698878.1:c.-14-50G>A | ENSP00000514000.1:n.-14-50G>A | |
| ENST00000345728.10:c.-14-50G>A MANE Select | ENSP00000339950.5:n.-14-50G>A | |
| ENST00000279227.9:c.-14-50G>A | ENSP00000279227.5:n.-14-50G>A | |
| ENST00000345728.9:c.-14-50G>A | ENSP00000339950.5:n.-14-50G>A | |
| ENST00000544997.5:c.-11-53G>A | ENSP00000445778.1:n.-11-53G>A | |
| NM_031471.5:c.-14-50G>A | NP_113659.3:n.-14-50G>A | |
| NM_178443.2:c.-14-50G>A , LRG_180t1:c.-14-50G>A | NP_848537.1:n.-14-50G>A | |
| XM_011545294.1:c.-11-53G>A | XP_011543596.1:n.-11-53G>A | |
| XM_011545294.3:c.-11-53G>A | XP_011543596.1:n.-11-53G>A | |
| XM_017018398.2:c.-11-53G>A | XP_016873887.1:n.-11-53G>A | |
| NM_031471.6:c.-14-50G>A MANE Select | NP_113659.3:n.-14-50G>A | |
| NM_001382361.1:c.-11-53G>A | NP_001369290.1:n.-11-53G>A | |
| NM_001382362.1:c.-11-53G>A | NP_001369291.1:n.-11-53G>A | |
| NM_001382448.1:c.-11-53G>A | NP_001369377.1:n.-11-53G>A | |
| NM_178443.3:c.-14-50G>A | NP_848537.1:n.-14-50G>A |