Linked Data
ClinVar Variation Id:
138306
dbSNP Id:
rs2303080
ExAC:
5:7878424 T / A
gnomAD v2:
5-7878424-T-A
gnomAD v3:
5-7878311-T-A
gnomAD v4:
5-7878311-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7878311T>A , CM000667.2:g.7878311T>A | GRCh38 |
| NC_000005.9:g.7878424T>A , CM000667.1:g.7878424T>A | GRCh37 |
| NC_000005.8:g.7931424T>A | NCBI36 |
| NG_008856.1:g.14208T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.769T>A MANE Select | ENSP00000402510.2:p.Ser257Thr | |
| ENST00000264668.6:c.850T>A | ENSP00000264668.2:p.Ser284Thr | |
| ENST00000440940.6:c.769T>A | ENSP00000402510.2:p.Ser257Thr | |
| ENST00000510525.5:c.794T>A | ||
| ENST00000511461.5:c.682T>A | ||
| ENST00000513439.5:c.*476T>A | ENSP00000426710.1:n.*476T>A | |
| ENST00000514369.5:c.*433T>A | ENSP00000426132.1:n.*433T>A | |
| NM_002454.2:c.769T>A | NP_002445.2:p.Ser257Thr | |
| NM_024010.2:c.850T>A | NP_076915.2:p.Ser284Thr | |
| XM_006714474.2:c.850T>A | XP_006714537.1:p.Ser284Thr | |
| XM_011514043.1:c.850T>A | XP_011512345.1:p.Ser284Thr | |
| XM_011514044.1:c.769T>A | XP_011512346.1:p.Ser257Thr | |
| XM_011514045.1:c.850T>A | XP_011512347.1:p.Ser284Thr | |
| XR_241702.1:n.872T>A | ||
| XR_241703.1:n.865T>A | ||
| XR_925614.1:n.872T>A | ||
| XR_925615.1:n.872T>A | ||
| NM_001364440.1:c.769T>A | NP_001351369.1:p.Ser257Thr | |
| NM_001364441.1:c.769T>A | NP_001351370.1:p.Ser257Thr | |
| NM_001364442.1:c.769T>A | NP_001351371.1:p.Ser257Thr | |
| NM_024010.3:c.769T>A | NP_076915.3:p.Ser257Thr | |
| NR_134480.1:n.892T>A | ||
| NR_134481.1:n.906T>A | ||
| NR_134482.1:n.752T>A | ||
| NR_157168.1:n.822T>A | ||
| NR_157169.1:n.682T>A | ||
| NR_157170.1:n.708T>A | ||
| NR_157171.1:n.682T>A | ||
| NR_157172.1:n.708T>A | ||
| NR_157173.1:n.836T>A | ||
| NR_157174.1:n.708T>A | ||
| NR_157175.1:n.862T>A | ||
| NR_157176.1:n.862T>A | ||
| NR_157177.1:n.857T>A | ||
| NR_157178.1:n.862T>A | ||
| XM_024446063.1:c.814T>A | XP_024301831.1:p.Ser272Thr | |
| XM_024446064.1:c.769T>A | XP_024301832.1:p.Ser257Thr | |
| XR_001742071.1:n.872T>A | ||
| XR_001742072.1:n.872T>A | ||
| XR_001742074.1:n.872T>A | ||
| XR_001742075.1:n.872T>A | ||
| XR_001742076.1:n.872T>A | ||
| XR_001742077.1:n.872T>A | ||
| NM_001364440.2:c.769T>A | NP_001351369.1:p.Ser257Thr | |
| NM_001364441.2:c.769T>A | NP_001351370.1:p.Ser257Thr | |
| NM_001364442.2:c.769T>A | NP_001351371.1:p.Ser257Thr | |
| NM_002454.3:c.769T>A MANE Select | NP_002445.2:p.Ser257Thr | |
| NM_024010.4:c.769T>A | NP_076915.3:p.Ser257Thr | |
| NR_134480.2:n.848T>A | ||
| NR_134481.2:n.862T>A | ||
| NR_134482.2:n.708T>A | ||
| NR_157168.2:n.822T>A | ||
| NR_157169.2:n.682T>A | ||
| NR_157170.2:n.708T>A | ||
| NR_157171.2:n.682T>A | ||
| NR_157172.2:n.708T>A | ||
| NR_157173.2:n.836T>A | ||
| NR_157174.2:n.708T>A | ||
| NR_157175.2:n.862T>A | ||
| NR_157176.2:n.862T>A | ||
| NR_157177.2:n.857T>A | ||
| NR_157178.2:n.862T>A |