Linked Data
ClinVar Variation Id:
1983797
ClinVar RCV Id:
RCV002800103
dbSNP Id:
rs775055062
ExAC:
11:63988108 C / T
gnomAD v2:
11-63988108-C-T
gnomAD v3:
11-64220636-C-T
gnomAD v4:
11-64220636-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220636C>T , CM000673.2:g.64220636C>T | GRCh38 |
| NC_000011.9:g.63988108C>T , CM000673.1:g.63988108C>T | GRCh37 |
| NC_000011.8:g.63744684C>T | NCBI36 |
| NG_016360.1:g.18957C>T , LRG_180:g.18957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1524C>T | ENSP00000279227.5:p.Ala508= | |
| ENST00000540554.2:n.2690C>T | ||
| ENST00000541252.2:c.972C>T | ENSP00000438885.2:p.Ala324= | |
| ENST00000541326.6:n.933C>T | ||
| ENST00000544997.6:c.1512C>T | ENSP00000445778.2:p.Ala504= | |
| ENST00000545896.2:c.201C>T | ENSP00000440209.2:p.Ala67= | |
| ENST00000546255.2:n.1816C>T | ||
| ENST00000698845.1:c.*707C>T | ENSP00000513981.1:n.*707C>T | |
| ENST00000698846.1:n.1758C>T | ||
| ENST00000698847.1:c.*917C>T | ENSP00000513982.1:n.*917C>T | |
| ENST00000698849.1:n.632C>T | ||
| ENST00000698850.1:n.1280C>T | ||
| ENST00000698852.1:c.1512C>T | ENSP00000513984.1:p.Ala504= | |
| ENST00000698853.1:c.*741C>T | ENSP00000513985.1:n.*741C>T | |
| ENST00000698854.1:c.*842C>T | ENSP00000513986.1:n.*842C>T | |
| ENST00000698855.1:n.3164C>T | ||
| ENST00000698856.1:n.2858C>T | ||
| ENST00000698859.1:n.1676C>T | ||
| ENST00000698860.1:c.1524C>T | ENSP00000513988.1:p.Ala508= | |
| ENST00000698861.1:c.1512C>T | ENSP00000513989.1:p.Ala504= | |
| ENST00000698862.1:c.*808C>T | ENSP00000513990.1:n.*808C>T | |
| ENST00000698863.1:c.1512C>T | ENSP00000513991.1:p.Ala504= | |
| ENST00000698864.1:n.1727C>T | ||
| ENST00000698865.1:c.1533C>T | ENSP00000513992.1:p.Ala511= | |
| ENST00000698866.1:c.*1026C>T | ENSP00000513993.1:n.*1026C>T | |
| ENST00000698867.1:n.5487C>T | ||
| ENST00000698868.1:c.1377C>T | ENSP00000513994.1:p.Ala459= | |
| ENST00000698869.1:c.1311+310C>T | ENSP00000513995.1:n.1311+310C>T | |
| ENST00000698870.1:c.1512C>T | ENSP00000513996.1:p.Ala504= | |
| ENST00000698871.1:n.2035C>T | ||
| ENST00000698872.1:c.*301C>T | ENSP00000513997.1:n.*301C>T | |
| ENST00000698873.1:c.*707C>T | ENSP00000513998.1:n.*707C>T | |
| ENST00000698874.1:c.972C>T | ENSP00000513999.1:p.Ala324= | |
| ENST00000698875.1:n.1372C>T | ||
| ENST00000698876.1:n.1560C>T | ||
| ENST00000698877.1:n.1080C>T | ||
| ENST00000698878.1:c.1506C>T | ENSP00000514000.1:p.Ala502= | |
| ENST00000698880.1:c.1380C>T | ||
| ENST00000345728.10:c.1512C>T MANE Select | ENSP00000339950.5:p.Ala504= | |
| ENST00000279227.9:c.1524C>T | ENSP00000279227.5:p.Ala508= | |
| ENST00000345728.9:c.1512C>T | ENSP00000339950.5:p.Ala504= | |
| ENST00000545896.1:c.200C>T | ENSP00000440209.1:p.Pro67Leu | |
| NM_031471.5:c.1512C>T | NP_113659.3:p.Ala504= | |
| NM_178443.2:c.1524C>T , LRG_180t1:c.1524C>T | NP_848537.1:p.Ala508= | |
| XM_011545294.1:c.1524C>T | XP_011543596.1:p.Ala508= | |
| XM_011545295.1:c.984C>T | XP_011543597.1:p.Ala328= | |
| XM_011545296.1:c.984C>T | XP_011543598.1:p.Ala328= | |
| XM_011545294.3:c.1524C>T | XP_011543596.1:p.Ala508= | |
| XM_011545295.2:c.984C>T | XP_011543597.1:p.Ala328= | |
| XM_017018398.2:c.1512C>T | XP_016873887.1:p.Ala504= | |
| XM_017018399.1:c.972C>T | XP_016873888.1:p.Ala324= | |
| NM_031471.6:c.1512C>T MANE Select | NP_113659.3:p.Ala504= | |
| NM_001382361.1:c.1512C>T | NP_001369290.1:p.Ala504= | |
| NM_001382362.1:c.1524C>T | NP_001369291.1:p.Ala508= | |
| NM_001382363.1:c.972C>T | NP_001369292.1:p.Ala324= | |
| NM_001382364.1:c.984C>T | NP_001369293.1:p.Ala328= | |
| NM_001382448.1:c.1512C>T | NP_001369377.1:p.Ala504= | |
| NM_178443.3:c.1524C>T | NP_848537.1:p.Ala508= |