Linked Data
ClinVar Variation Id:
1415917
ClinVar RCV Id:
RCV001921115
dbSNP Id:
rs772388994
ExAC:
11:63988035 G / C
gnomAD v2:
11-63988035-G-C
gnomAD v3:
11-64220563-G-C
gnomAD v4:
11-64220563-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220563G>C , CM000673.2:g.64220563G>C | GRCh38 |
| NC_000011.9:g.63988035G>C , CM000673.1:g.63988035G>C | GRCh37 |
| NC_000011.8:g.63744611G>C | NCBI36 |
| NG_016360.1:g.18884G>C , LRG_180:g.18884G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1451G>C | ENSP00000279227.5:p.Ser484Thr | |
| ENST00000540554.2:n.2617G>C | ||
| ENST00000541252.2:c.899G>C | ENSP00000438885.2:p.Ser300Thr | |
| ENST00000541326.6:n.860G>C | ||
| ENST00000544997.6:c.1439G>C | ENSP00000445778.2:p.Ser480Thr | |
| ENST00000545896.2:c.128G>C | ENSP00000440209.2:p.Ser43Thr | |
| ENST00000546255.2:n.1743G>C | ||
| ENST00000698845.1:c.*634G>C | ENSP00000513981.1:n.*634G>C | |
| ENST00000698846.1:n.1685G>C | ||
| ENST00000698847.1:c.*844G>C | ENSP00000513982.1:n.*844G>C | |
| ENST00000698849.1:n.559G>C | ||
| ENST00000698850.1:n.1207G>C | ||
| ENST00000698852.1:c.1439G>C | ENSP00000513984.1:p.Ser480Thr | |
| ENST00000698853.1:c.*668G>C | ENSP00000513985.1:n.*668G>C | |
| ENST00000698854.1:c.*769G>C | ENSP00000513986.1:n.*769G>C | |
| ENST00000698855.1:n.3091G>C | ||
| ENST00000698856.1:n.2785G>C | ||
| ENST00000698859.1:n.1603G>C | ||
| ENST00000698860.1:c.1451G>C | ENSP00000513988.1:p.Ser484Thr | |
| ENST00000698861.1:c.1439G>C | ENSP00000513989.1:p.Ser480Thr | |
| ENST00000698862.1:c.*735G>C | ENSP00000513990.1:n.*735G>C | |
| ENST00000698863.1:c.1439G>C | ENSP00000513991.1:p.Ser480Thr | |
| ENST00000698864.1:n.1654G>C | ||
| ENST00000698865.1:c.1460G>C | ENSP00000513992.1:p.Ser487Thr | |
| ENST00000698866.1:c.*953G>C | ENSP00000513993.1:n.*953G>C | |
| ENST00000698867.1:n.5414G>C | ||
| ENST00000698868.1:c.1304G>C | ENSP00000513994.1:p.Ser435Thr | |
| ENST00000698869.1:c.1311+237G>C | ENSP00000513995.1:n.1311+237G>C | |
| ENST00000698870.1:c.1439G>C | ENSP00000513996.1:p.Ser480Thr | |
| ENST00000698871.1:n.1962G>C | ||
| ENST00000698872.1:c.*228G>C | ENSP00000513997.1:n.*228G>C | |
| ENST00000698873.1:c.*634G>C | ENSP00000513998.1:n.*634G>C | |
| ENST00000698874.1:c.899G>C | ENSP00000513999.1:p.Ser300Thr | |
| ENST00000698875.1:n.1299G>C | ||
| ENST00000698876.1:n.1487G>C | ||
| ENST00000698877.1:n.1007G>C | ||
| ENST00000698878.1:c.1433G>C | ENSP00000514000.1:p.Ser478Thr | |
| ENST00000698880.1:c.1307G>C | ||
| ENST00000345728.10:c.1439G>C MANE Select | ENSP00000339950.5:p.Ser480Thr | |
| ENST00000279227.9:c.1451G>C | ENSP00000279227.5:p.Ser484Thr | |
| ENST00000345728.9:c.1439G>C | ENSP00000339950.5:p.Ser480Thr | |
| ENST00000541326.5:n.855G>C | ||
| ENST00000545896.1:c.127G>C | ENSP00000440209.1:p.Val43Leu | |
| NM_031471.5:c.1439G>C | NP_113659.3:p.Ser480Thr | |
| NM_178443.2:c.1451G>C , LRG_180t1:c.1451G>C | NP_848537.1:p.Ser484Thr | |
| XM_011545294.1:c.1451G>C | XP_011543596.1:p.Ser484Thr | |
| XM_011545295.1:c.911G>C | XP_011543597.1:p.Ser304Thr | |
| XM_011545296.1:c.911G>C | XP_011543598.1:p.Ser304Thr | |
| XM_011545294.3:c.1451G>C | XP_011543596.1:p.Ser484Thr | |
| XM_011545295.2:c.911G>C | XP_011543597.1:p.Ser304Thr | |
| XM_017018398.2:c.1439G>C | XP_016873887.1:p.Ser480Thr | |
| XM_017018399.1:c.899G>C | XP_016873888.1:p.Ser300Thr | |
| NM_031471.6:c.1439G>C MANE Select | NP_113659.3:p.Ser480Thr | |
| NM_001382361.1:c.1439G>C | NP_001369290.1:p.Ser480Thr | |
| NM_001382362.1:c.1451G>C | NP_001369291.1:p.Ser484Thr | |
| NM_001382363.1:c.899G>C | NP_001369292.1:p.Ser300Thr | |
| NM_001382364.1:c.911G>C | NP_001369293.1:p.Ser304Thr | |
| NM_001382448.1:c.1439G>C | NP_001369377.1:p.Ser480Thr | |
| NM_178443.3:c.1451G>C | NP_848537.1:p.Ser484Thr |