Linked Data
ClinVar Variation Id:
719757
dbSNP Id:
rs138031026
ExAC:
11:63988119 A / C
gnomAD v2:
11-63988119-A-C
gnomAD v3:
11-64220647-A-C
gnomAD v4:
11-64220647-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220647A>C , CM000673.2:g.64220647A>C | GRCh38 |
| NC_000011.9:g.63988119A>C , CM000673.1:g.63988119A>C | GRCh37 |
| NC_000011.8:g.63744695A>C | NCBI36 |
| NG_016360.1:g.18968A>C , LRG_180:g.18968A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1535A>C | ENSP00000279227.5:p.Gln512Pro | |
| ENST00000540554.2:n.2701A>C | ||
| ENST00000541252.2:c.983A>C | ENSP00000438885.2:p.Gln328Pro | |
| ENST00000541326.6:n.944A>C | ||
| ENST00000544997.6:c.1523A>C | ENSP00000445778.2:p.Gln508Pro | |
| ENST00000545896.2:c.212A>C | ENSP00000440209.2:p.Gln71Pro | |
| ENST00000546255.2:n.1827A>C | ||
| ENST00000698845.1:c.*718A>C | ENSP00000513981.1:n.*718A>C | |
| ENST00000698846.1:n.1769A>C | ||
| ENST00000698847.1:c.*928A>C | ENSP00000513982.1:n.*928A>C | |
| ENST00000698849.1:n.643A>C | ||
| ENST00000698850.1:n.1291A>C | ||
| ENST00000698852.1:c.1523A>C | ENSP00000513984.1:p.Gln508Pro | |
| ENST00000698853.1:c.*752A>C | ENSP00000513985.1:n.*752A>C | |
| ENST00000698854.1:c.*853A>C | ENSP00000513986.1:n.*853A>C | |
| ENST00000698855.1:n.3175A>C | ||
| ENST00000698856.1:n.2869A>C | ||
| ENST00000698859.1:n.1687A>C | ||
| ENST00000698860.1:c.1535A>C | ENSP00000513988.1:p.Gln512Pro | |
| ENST00000698861.1:c.1523A>C | ENSP00000513989.1:p.Gln508Pro | |
| ENST00000698862.1:c.*819A>C | ENSP00000513990.1:n.*819A>C | |
| ENST00000698863.1:c.1523A>C | ENSP00000513991.1:p.Gln508Pro | |
| ENST00000698864.1:n.1738A>C | ||
| ENST00000698865.1:c.1544A>C | ENSP00000513992.1:p.Gln515Pro | |
| ENST00000698866.1:c.*1037A>C | ENSP00000513993.1:n.*1037A>C | |
| ENST00000698867.1:n.5498A>C | ||
| ENST00000698868.1:c.1388A>C | ENSP00000513994.1:p.Gln463Pro | |
| ENST00000698869.1:c.1311+321A>C | ENSP00000513995.1:n.1311+321A>C | |
| ENST00000698870.1:c.1523A>C | ENSP00000513996.1:p.Gln508Pro | |
| ENST00000698871.1:n.2046A>C | ||
| ENST00000698872.1:c.*312A>C | ENSP00000513997.1:n.*312A>C | |
| ENST00000698873.1:c.*718A>C | ENSP00000513998.1:n.*718A>C | |
| ENST00000698874.1:c.983A>C | ENSP00000513999.1:p.Gln328Pro | |
| ENST00000698875.1:n.1383A>C | ||
| ENST00000698876.1:n.1571A>C | ||
| ENST00000698877.1:n.1091A>C | ||
| ENST00000698878.1:c.1517A>C | ENSP00000514000.1:p.Gln506Pro | |
| ENST00000698880.1:c.1391A>C | ||
| ENST00000345728.10:c.1523A>C MANE Select | ENSP00000339950.5:p.Gln508Pro | |
| ENST00000279227.9:c.1535A>C | ENSP00000279227.5:p.Gln512Pro | |
| ENST00000345728.9:c.1523A>C | ENSP00000339950.5:p.Gln508Pro | |
| ENST00000545896.1:c.211A>C | ENSP00000440209.1:p.Ser71Arg | |
| NM_031471.5:c.1523A>C | NP_113659.3:p.Gln508Pro | |
| NM_178443.2:c.1535A>C , LRG_180t1:c.1535A>C | NP_848537.1:p.Gln512Pro | |
| XM_011545294.1:c.1535A>C | XP_011543596.1:p.Gln512Pro | |
| XM_011545295.1:c.995A>C | XP_011543597.1:p.Gln332Pro | |
| XM_011545296.1:c.995A>C | XP_011543598.1:p.Gln332Pro | |
| XM_011545294.3:c.1535A>C | XP_011543596.1:p.Gln512Pro | |
| XM_011545295.2:c.995A>C | XP_011543597.1:p.Gln332Pro | |
| XM_017018398.2:c.1523A>C | XP_016873887.1:p.Gln508Pro | |
| XM_017018399.1:c.983A>C | XP_016873888.1:p.Gln328Pro | |
| NM_031471.6:c.1523A>C MANE Select | NP_113659.3:p.Gln508Pro | |
| NM_001382361.1:c.1523A>C | NP_001369290.1:p.Gln508Pro | |
| NM_001382362.1:c.1535A>C | NP_001369291.1:p.Gln512Pro | |
| NM_001382363.1:c.983A>C | NP_001369292.1:p.Gln328Pro | |
| NM_001382364.1:c.995A>C | NP_001369293.1:p.Gln332Pro | |
| NM_001382448.1:c.1523A>C | NP_001369377.1:p.Gln508Pro | |
| NM_178443.3:c.1535A>C | NP_848537.1:p.Gln512Pro |