Linked Data
ClinVar Variation Id:
526355
dbSNP Id:
rs751262177
ExAC:
14:45639947 C / T
gnomAD v2:
14-45639947-C-T
gnomAD v3:
14-45170744-C-T
gnomAD v4:
14-45170744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45170744C>T , CM000676.2:g.45170744C>T | GRCh38 |
| NC_000014.8:g.45639947C>T , CM000676.1:g.45639947C>T | GRCh37 |
| NC_000014.7:g.44709697C>T | NCBI36 |
| NG_007417.1:g.39812C>T , LRG_502:g.39812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.370C>T | ENSP00000450632.2:p.Pro124Ser | |
| ENST00000556250.6:c.1951C>T | ENSP00000452033.2:p.Pro651Ser | |
| ENST00000696641.1:c.1999C>T | ENSP00000512774.1:p.Pro667Ser | |
| ENST00000696642.1:c.*969C>T | ENSP00000512775.1:n.*969C>T | |
| ENST00000696646.1:c.*969C>T | ENSP00000512777.1:n.*969C>T | |
| ENST00000696647.1:c.2158C>T | ENSP00000512778.1:p.Pro720Ser | |
| ENST00000696648.1:c.*183C>T | ENSP00000512779.1:n.*183C>T | |
| ENST00000696649.1:c.2158C>T | ENSP00000512780.1:p.Pro720Ser | |
| ENST00000696650.1:n.2106C>T | ||
| ENST00000696658.1:n.2708C>T | ||
| ENST00000696659.1:c.156C>T | ||
| ENST00000696663.1:c.975C>T | ||
| ENST00000696664.1:c.975C>T | ||
| ENST00000696675.1:c.2158C>T | ENSP00000512799.1:p.Pro720Ser | |
| ENST00000696683.1:c.975C>T | ||
| ENST00000696684.1:c.975C>T | ||
| ENST00000696685.1:c.975C>T | ||
| ENST00000267430.10:c.2158C>T MANE Select | ENSP00000267430.5:p.Pro720Ser | |
| ENST00000267430.9:c.2158C>T | ENSP00000267430.5:p.Pro720Ser | |
| ENST00000542564.6:c.2080C>T | ENSP00000442493.2:p.Pro694Ser | |
| ENST00000556250.5:c.706C>T | ENSP00000452033.1:p.Pro236Ser | |
| NM_001308133.1:c.2080C>T | NP_001295062.1:p.Pro694Ser | |
| NM_020937.2:c.2158C>T , LRG_502t1:c.2158C>T | NP_065988.1:p.Pro720Ser | |
| NM_020937.3:c.2158C>T | NP_065988.1:p.Pro720Ser | |
| XM_011537034.1:c.2158C>T | XP_011535336.1:p.Pro720Ser | |
| XM_011537035.1:c.2080C>T | XP_011535337.1:p.Pro694Ser | |
| XM_011537036.1:c.2158C>T | XP_011535338.1:p.Pro720Ser | |
| XM_011537037.1:c.172C>T | XP_011535339.1:p.Pro58Ser | |
| XM_011537034.2:c.2158C>T | XP_011535336.1:p.Pro720Ser | |
| XM_011537035.3:c.2080C>T | XP_011535337.1:p.Pro694Ser | |
| XM_011537037.3:c.172C>T | XP_011535339.1:p.Pro58Ser | |
| XM_017021523.1:c.2158C>T | XP_016877012.1:p.Pro720Ser | |
| XM_017021524.2:c.1195C>T | XP_016877013.1:p.Pro399Ser | |
| XM_017021525.2:c.973C>T | XP_016877014.1:p.Pro325Ser | |
| XM_017021526.2:c.973C>T | XP_016877015.1:p.Pro325Ser | |
| XM_017021527.1:c.973C>T | XP_016877016.1:p.Pro325Ser | |
| XR_001750470.1:n.2250C>T | ||
| XR_001750471.2:n.2250C>T | ||
| XR_001750472.1:n.2250C>T | ||
| NM_020937.4:c.2158C>T MANE Select | NP_065988.1:p.Pro720Ser | |
| NM_001308133.2:c.2080C>T | NP_001295062.1:p.Pro694Ser |