Linked Data
dbSNP Id:
rs192282539
ExAC:
11:63987828 C / T
gnomAD v2:
11-63987828-C-T
gnomAD v3:
11-64220356-C-T
gnomAD v4:
11-64220356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220356C>T , CM000673.2:g.64220356C>T | GRCh38 |
| NC_000011.9:g.63987828C>T , CM000673.1:g.63987828C>T | GRCh37 |
| NC_000011.8:g.63744404C>T | NCBI36 |
| NG_016360.1:g.18677C>T , LRG_180:g.18677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1323+30C>T | ENSP00000279227.5:n.1323+30C>T | |
| ENST00000540554.2:n.2410C>T | ||
| ENST00000541252.2:c.771+30C>T | ENSP00000438885.2:n.771+30C>T | |
| ENST00000541326.6:n.653C>T | ||
| ENST00000544997.6:c.1311+30C>T | ENSP00000445778.2:n.1311+30C>T | |
| ENST00000546255.2:n.1536C>T | ||
| ENST00000698845.1:c.*506+30C>T | ENSP00000513981.1:n.*506+30C>T | |
| ENST00000698846.1:n.1478C>T | ||
| ENST00000698847.1:c.*716+30C>T | ENSP00000513982.1:n.*716+30C>T | |
| ENST00000698848.1:n.530C>T | ||
| ENST00000698849.1:n.431+30C>T | ||
| ENST00000698850.1:n.1000C>T | ||
| ENST00000698852.1:c.1311+30C>T | ENSP00000513984.1:n.1311+30C>T | |
| ENST00000698853.1:c.*540+30C>T | ENSP00000513985.1:n.*540+30C>T | |
| ENST00000698854.1:c.*641+30C>T | ENSP00000513986.1:n.*641+30C>T | |
| ENST00000698855.1:n.2963+30C>T | ||
| ENST00000698856.1:n.2578C>T | ||
| ENST00000698859.1:n.1475+30C>T | ||
| ENST00000698860.1:c.1323+30C>T | ENSP00000513988.1:n.1323+30C>T | |
| ENST00000698861.1:c.1311+30C>T | ENSP00000513989.1:n.1311+30C>T | |
| ENST00000698862.1:c.*607+30C>T | ENSP00000513990.1:n.*607+30C>T | |
| ENST00000698863.1:c.1311+30C>T | ENSP00000513991.1:n.1311+30C>T | |
| ENST00000698864.1:n.1447C>T | ||
| ENST00000698865.1:c.1332+30C>T | ENSP00000513992.1:n.1332+30C>T | |
| ENST00000698866.1:c.*746C>T | ENSP00000513993.1:n.*746C>T | |
| ENST00000698867.1:n.5286+30C>T | ||
| ENST00000698868.1:c.1176+30C>T | ENSP00000513994.1:n.1176+30C>T | |
| ENST00000698869.1:c.1311+30C>T | ENSP00000513995.1:n.1311+30C>T | |
| ENST00000698870.1:c.1311+30C>T | ENSP00000513996.1:n.1311+30C>T | |
| ENST00000698871.1:n.1834+30C>T | ||
| ENST00000698872.1:c.*100+30C>T | ENSP00000513997.1:n.*100+30C>T | |
| ENST00000698873.1:c.*506+30C>T | ENSP00000513998.1:n.*506+30C>T | |
| ENST00000698874.1:c.771+30C>T | ENSP00000513999.1:n.771+30C>T | |
| ENST00000698875.1:n.1171+30C>T | ||
| ENST00000698876.1:n.1280C>T | ||
| ENST00000698877.1:n.879+30C>T | ||
| ENST00000698878.1:c.1311+30C>T | ENSP00000514000.1:n.1311+30C>T | |
| ENST00000698880.1:c.1151+30C>T | ||
| ENST00000345728.10:c.1311+30C>T MANE Select | ENSP00000339950.5:n.1311+30C>T | |
| ENST00000279227.9:c.1323+30C>T | ENSP00000279227.5:n.1323+30C>T | |
| ENST00000345728.9:c.1311+30C>T | ENSP00000339950.5:n.1311+30C>T | |
| ENST00000540957.1:n.494C>T | ||
| ENST00000541326.5:n.648C>T | ||
| NM_031471.5:c.1311+30C>T | NP_113659.3:n.1311+30C>T | |
| NM_178443.2:c.1323+30C>T , LRG_180t1:c.1323+30C>T | NP_848537.1:n.1323+30C>T | |
| XM_011545294.1:c.1323+30C>T | XP_011543596.1:n.1323+30C>T | |
| XM_011545295.1:c.783+30C>T | XP_011543597.1:n.783+30C>T | |
| XM_011545296.1:c.783+30C>T | XP_011543598.1:n.783+30C>T | |
| XM_011545294.3:c.1323+30C>T | XP_011543596.1:n.1323+30C>T | |
| XM_011545295.2:c.783+30C>T | XP_011543597.1:n.783+30C>T | |
| XM_017018398.2:c.1311+30C>T | XP_016873887.1:n.1311+30C>T | |
| XM_017018399.1:c.771+30C>T | XP_016873888.1:n.771+30C>T | |
| NM_031471.6:c.1311+30C>T MANE Select | NP_113659.3:n.1311+30C>T | |
| NM_001382361.1:c.1311+30C>T | NP_001369290.1:n.1311+30C>T | |
| NM_001382362.1:c.1323+30C>T | NP_001369291.1:n.1323+30C>T | |
| NM_001382363.1:c.771+30C>T | NP_001369292.1:n.771+30C>T | |
| NM_001382364.1:c.783+30C>T | NP_001369293.1:n.783+30C>T | |
| NM_001382448.1:c.1311+30C>T | NP_001369377.1:n.1311+30C>T | |
| NM_178443.3:c.1323+30C>T | NP_848537.1:n.1323+30C>T |