Linked Data
dbSNP Id:
rs372298391
ExAC:
11:63988173 T / C
gnomAD v2:
11-63988173-T-C
gnomAD v3:
11-64220701-T-C
gnomAD v4:
11-64220701-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220701T>C , CM000673.2:g.64220701T>C | GRCh38 |
| NC_000011.9:g.63988173T>C , CM000673.1:g.63988173T>C | GRCh37 |
| NC_000011.8:g.63744749T>C | NCBI36 |
| NG_016360.1:g.19022T>C , LRG_180:g.19022T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1557+32T>C | ENSP00000279227.5:n.1557+32T>C | |
| ENST00000540554.2:n.2755T>C | ||
| ENST00000541252.2:c.1005+32T>C | ENSP00000438885.2:n.1005+32T>C | |
| ENST00000544997.6:c.1545+32T>C | ENSP00000445778.2:n.1545+32T>C | |
| ENST00000545896.2:c.234+32T>C | ENSP00000440209.2:n.234+32T>C | |
| ENST00000546255.2:n.1849+32T>C | ||
| ENST00000698845.1:c.*740+32T>C | ENSP00000513981.1:n.*740+32T>C | |
| ENST00000698846.1:n.1791+32T>C | ||
| ENST00000698847.1:c.*950+32T>C | ENSP00000513982.1:n.*950+32T>C | |
| ENST00000698850.1:n.1345T>C | ||
| ENST00000698852.1:c.1545+32T>C | ENSP00000513984.1:n.1545+32T>C | |
| ENST00000698853.1:c.*774+32T>C | ENSP00000513985.1:n.*774+32T>C | |
| ENST00000698854.1:c.*875+32T>C | ENSP00000513986.1:n.*875+32T>C | |
| ENST00000698855.1:n.3197+32T>C | ||
| ENST00000698856.1:n.2891+32T>C | ||
| ENST00000698859.1:n.1741T>C | ||
| ENST00000698860.1:c.1557+32T>C | ENSP00000513988.1:n.1557+32T>C | |
| ENST00000698861.1:c.1545+32T>C | ENSP00000513989.1:n.1545+32T>C | |
| ENST00000698862.1:c.*841+32T>C | ENSP00000513990.1:n.*841+32T>C | |
| ENST00000698863.1:c.1545+32T>C | ENSP00000513991.1:n.1545+32T>C | |
| ENST00000698864.1:n.1792T>C | ||
| ENST00000698865.1:c.1566+32T>C | ENSP00000513992.1:n.1566+32T>C | |
| ENST00000698866.1:c.*1059+32T>C | ENSP00000513993.1:n.*1059+32T>C | |
| ENST00000698867.1:n.5520+32T>C | ||
| ENST00000698868.1:c.1410+32T>C | ENSP00000513994.1:n.1410+32T>C | |
| ENST00000698869.1:c.1312-315T>C | ENSP00000513995.1:n.1312-315T>C | |
| ENST00000698870.1:c.1545+32T>C | ENSP00000513996.1:n.1545+32T>C | |
| ENST00000698871.1:n.2068+32T>C | ||
| ENST00000698872.1:c.*334+32T>C | ENSP00000513997.1:n.*334+32T>C | |
| ENST00000698873.1:c.*740+32T>C | ENSP00000513998.1:n.*740+32T>C | |
| ENST00000698874.1:c.1005+32T>C | ENSP00000513999.1:n.1005+32T>C | |
| ENST00000698875.1:n.1405+32T>C | ||
| ENST00000698876.1:n.1593+32T>C | ||
| ENST00000698877.1:n.1113+32T>C | ||
| ENST00000698878.1:c.1539+32T>C | ENSP00000514000.1:n.1539+32T>C | |
| ENST00000698880.1:c.1413+32T>C | ||
| ENST00000345728.10:c.1545+32T>C MANE Select | ENSP00000339950.5:n.1545+32T>C | |
| ENST00000279227.9:c.1557+32T>C | ENSP00000279227.5:n.1557+32T>C | |
| ENST00000345728.9:c.1545+32T>C | ENSP00000339950.5:n.1545+32T>C | |
| ENST00000545896.1:c.233+32T>C | ENSP00000440209.1:n.233+32T>C | |
| NM_031471.5:c.1545+32T>C | NP_113659.3:n.1545+32T>C | |
| NM_178443.2:c.1557+32T>C , LRG_180t1:c.1557+32T>C | NP_848537.1:n.1557+32T>C | |
| XM_011545294.1:c.1557+32T>C | XP_011543596.1:n.1557+32T>C | |
| XM_011545295.1:c.1017+32T>C | XP_011543597.1:n.1017+32T>C | |
| XM_011545296.1:c.1017+32T>C | XP_011543598.1:n.1017+32T>C | |
| XM_011545294.3:c.1557+32T>C | XP_011543596.1:n.1557+32T>C | |
| XM_011545295.2:c.1017+32T>C | XP_011543597.1:n.1017+32T>C | |
| XM_017018398.2:c.1545+32T>C | XP_016873887.1:n.1545+32T>C | |
| XM_017018399.1:c.1005+32T>C | XP_016873888.1:n.1005+32T>C | |
| NM_031471.6:c.1545+32T>C MANE Select | NP_113659.3:n.1545+32T>C | |
| NM_001382361.1:c.1545+32T>C | NP_001369290.1:n.1545+32T>C | |
| NM_001382362.1:c.1557+32T>C | NP_001369291.1:n.1557+32T>C | |
| NM_001382363.1:c.1005+32T>C | NP_001369292.1:n.1005+32T>C | |
| NM_001382364.1:c.1017+32T>C | NP_001369293.1:n.1017+32T>C | |
| NM_001382448.1:c.1545+32T>C | NP_001369377.1:n.1545+32T>C | |
| NM_178443.3:c.1557+32T>C | NP_848537.1:n.1557+32T>C |