Linked Data
ClinVar Variation Id:
519381
dbSNP Id:
rs749728556
ExAC:
1:156104259 T / C
gnomAD v2:
1-156104259-T-C
gnomAD v3:
1-156134468-T-C
gnomAD v4:
1-156134468-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156134468T>C , CM000663.2:g.156134468T>C | GRCh38 |
| NC_000001.10:g.156104259T>C , CM000663.1:g.156104259T>C | GRCh37 |
| NC_000001.9:g.154370883T>C | NCBI36 |
| NG_008692.2:g.56896T>C , LRG_254:g.56896T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.21T>C | ENSP00000426535.3:p.Ala7= | |
| ENST00000682650.1:c.579T>C | ENSP00000506904.1:p.Ala193= | |
| ENST00000683032.1:c.579T>C | ENSP00000506771.1:p.Ala193= | |
| ENST00000684195.1:c.579T>C | ENSP00000508220.1:p.Ala193= | |
| ENST00000361308.9:c.579T>C | ENSP00000355292.6:p.Ala193= | |
| ENST00000368300.9:c.579T>C MANE Select | ENSP00000357283.4:p.Ala193= | |
| ENST00000496738.6:n.954T>C | ||
| ENST00000504687.6:c.-86T>C | ENSP00000426535.2:n.-86T>C | |
| ENST00000674518.1:c.579T>C | ENSP00000502261.1:p.Ala193= | |
| ENST00000674600.1:c.*378T>C | ENSP00000501666.1:n.*378T>C | |
| ENST00000674720.1:c.579T>C | ENSP00000502798.1:p.Ala193= | |
| ENST00000675431.1:n.272T>C | ||
| ENST00000675455.1:c.*379T>C | ENSP00000501795.1:n.*379T>C | |
| ENST00000675667.1:c.579T>C | ENSP00000501803.1:p.Ala193= | |
| ENST00000675874.1:c.*50T>C | ENSP00000501851.1:n.*50T>C | |
| ENST00000675881.1:c.579T>C | ENSP00000501670.1:p.Ala193= | |
| ENST00000675939.1:c.579T>C | ENSP00000502256.1:p.Ala193= | |
| ENST00000675989.1:n.954T>C | ||
| ENST00000676208.1:c.579T>C | ENSP00000502468.1:p.Ala193= | |
| ENST00000676283.1:n.954T>C | ||
| ENST00000676385.2:c.579T>C | ENSP00000502091.1:p.Ala193= | |
| ENST00000676434.1:c.579T>C | ENSP00000501648.1:p.Ala193= | |
| ENST00000677389.1:c.579T>C MANE Plus Clinical | ENSP00000503633.1:p.Ala193= | |
| ENST00000347559.6:c.579T>C | ENSP00000292304.3:p.Ala193= | |
| ENST00000361308.8:c.579T>C | ENSP00000355292.5:p.Ala193= | |
| ENST00000368297.5:c.336T>C | ENSP00000357280.1:p.Ala112= | |
| ENST00000368299.7:c.579T>C | ENSP00000357282.3:p.Ala193= | |
| ENST00000368300.8:c.579T>C | ENSP00000357283.4:p.Ala193= | |
| ENST00000368301.6:c.579T>C | ENSP00000357284.2:p.Ala193= | |
| ENST00000448611.6:c.243T>C | ENSP00000395597.2:p.Ala81= | |
| ENST00000470199.2:n.521T>C | ||
| ENST00000473598.6:c.282T>C | ENSP00000421821.1:p.Ala94= | |
| ENST00000502357.5:n.477T>C | ||
| ENST00000502751.5:n.551T>C | ||
| ENST00000504687.5:c.330T>C | ENSP00000426535.1:p.Ala110= | |
| ENST00000515459.5:c.*253T>C | ENSP00000424518.1:n.*253T>C | |
| NM_001257374.2:c.243T>C | NP_001244303.1:p.Ala81= | |
| NM_001282624.1:c.336T>C | NP_001269553.1:p.Ala112= | |
| NM_001282625.1:c.579T>C | NP_001269554.1:p.Ala193= | |
| NM_001282626.1:c.579T>C | NP_001269555.1:p.Ala193= | |
| NM_005572.3:c.579T>C , LRG_254t1:c.579T>C | NP_005563.1:p.Ala193= | |
| NM_170707.3:c.579T>C | NP_733821.1:p.Ala193= | |
| NM_170708.3:c.579T>C | NP_733822.1:p.Ala193= | |
| XM_011509533.1:c.243T>C | XP_011507835.1:p.Ala81= | |
| XM_011509534.1:c.-86T>C | XP_011507836.1:n.-86T>C | |
| XR_921781.1:n.828T>C | ||
| XM_011509534.2:c.-86T>C | XP_011507836.1:n.-86T>C | |
| XR_921781.2:n.826T>C | ||
| NM_170707.4:c.579T>C MANE Select | NP_733821.1:p.Ala193= | |
| NM_001257374.3:c.243T>C | NP_001244303.1:p.Ala81= | |
| NM_001282626.2:c.579T>C | NP_001269555.1:p.Ala193= | |
| NM_001282624.2:c.336T>C | NP_001269553.1:p.Ala112= | |
| NM_001282625.2:c.579T>C | NP_001269554.1:p.Ala193= | |
| NM_005572.4:c.579T>C MANE Plus Clinical | NP_005563.1:p.Ala193= | |
| NM_170708.4:c.579T>C | NP_733822.1:p.Ala193= |