Linked Data
dbSNP Id:
rs201247015
ExAC:
11:63974813 C / A
gnomAD v2:
11-63974813-C-A
gnomAD v3:
11-64207341-C-A
gnomAD v4:
11-64207341-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64207341C>A , CM000673.2:g.64207341C>A | GRCh38 |
| NC_000011.9:g.63974813C>A , CM000673.1:g.63974813C>A | GRCh37 |
| NC_000011.8:g.63731389C>A | NCBI36 |
| NG_016360.1:g.5662C>A , LRG_180:g.5662C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.-14-10C>A | ENSP00000279227.5:n.-14-10C>A | |
| ENST00000544997.6:c.-11-13C>A | ENSP00000445778.2:n.-11-13C>A | |
| ENST00000546255.2:n.84-13C>A | ||
| ENST00000698845.1:c.-11-13C>A | ENSP00000513981.1:n.-11-13C>A | |
| ENST00000698846.1:n.124-10C>A | ||
| ENST00000698847.1:c.-14-10C>A | ENSP00000513982.1:n.-14-10C>A | |
| ENST00000698852.1:c.-24C>A | ENSP00000513984.1:n.-24C>A | |
| ENST00000698853.1:c.-14-10C>A | ENSP00000513985.1:n.-14-10C>A | |
| ENST00000698854.1:c.-14-10C>A | ENSP00000513986.1:n.-14-10C>A | |
| ENST00000698859.1:n.151-10C>A | ||
| ENST00000698860.1:c.-11-13C>A | ENSP00000513988.1:n.-11-13C>A | |
| ENST00000698861.1:c.-8-16C>A | ENSP00000513989.1:n.-8-16C>A | |
| ENST00000698862.1:c.-14-10C>A | ENSP00000513990.1:n.-14-10C>A | |
| ENST00000698863.1:c.-24C>A | ENSP00000513991.1:n.-24C>A | |
| ENST00000698864.1:n.93-10C>A | ||
| ENST00000698865.1:c.-14-10C>A | ENSP00000513992.1:n.-14-10C>A | |
| ENST00000698866.1:c.-14-10C>A | ENSP00000513993.1:n.-14-10C>A | |
| ENST00000698867.1:n.600C>A | ||
| ENST00000698868.1:c.-14-10C>A | ENSP00000513994.1:n.-14-10C>A | |
| ENST00000698869.1:c.-14-10C>A | ENSP00000513995.1:n.-14-10C>A | |
| ENST00000698870.1:c.-24C>A | ENSP00000513996.1:n.-24C>A | |
| ENST00000698871.1:n.234C>A | ||
| ENST00000698878.1:c.-14-10C>A | ENSP00000514000.1:n.-14-10C>A | |
| ENST00000345728.10:c.-14-10C>A MANE Select | ENSP00000339950.5:n.-14-10C>A | |
| ENST00000279227.9:c.-14-10C>A | ENSP00000279227.5:n.-14-10C>A | |
| ENST00000345728.9:c.-14-10C>A | ENSP00000339950.5:n.-14-10C>A | |
| ENST00000544997.5:c.-11-13C>A | ENSP00000445778.1:n.-11-13C>A | |
| NM_031471.5:c.-14-10C>A | NP_113659.3:n.-14-10C>A | |
| NM_178443.2:c.-14-10C>A , LRG_180t1:c.-14-10C>A | NP_848537.1:n.-14-10C>A | |
| XM_011545294.1:c.-11-13C>A | XP_011543596.1:n.-11-13C>A | |
| XM_011545294.3:c.-11-13C>A | XP_011543596.1:n.-11-13C>A | |
| XM_017018398.2:c.-11-13C>A | XP_016873887.1:n.-11-13C>A | |
| NM_031471.6:c.-14-10C>A MANE Select | NP_113659.3:n.-14-10C>A | |
| NM_001382361.1:c.-11-13C>A | NP_001369290.1:n.-11-13C>A | |
| NM_001382362.1:c.-11-13C>A | NP_001369291.1:n.-11-13C>A | |
| NM_001382448.1:c.-11-13C>A | NP_001369377.1:n.-11-13C>A | |
| NM_178443.3:c.-14-10C>A | NP_848537.1:n.-14-10C>A |