Linked Data
ClinVar Variation Id:
195884
dbSNP Id:
rs141724499
ExAC:
9:133960972 C / T
gnomAD v2:
9-133960972-C-T
gnomAD v3:
9-131085585-C-T
gnomAD v4:
9-131085585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131085585C>T , CM000671.2:g.131085585C>T | GRCh38 |
| NC_000009.11:g.133960972C>T , CM000671.1:g.133960972C>T | GRCh37 |
| NC_000009.10:g.132950793C>T | NCBI36 |
| NG_029800.1:g.81469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361069.9:c.4092C>T MANE Select | ENSP00000354360.4:p.Ser1364= | |
| ENST00000678544.1:n.1665C>T | ||
| ENST00000678758.1:c.252C>T | ENSP00000503612.1:p.Ser84= | |
| ENST00000355452.5:c.160-23C>T | ||
| ENST00000361069.8:c.4092C>T | ENSP00000354360.4:p.Ser1364= | |
| ENST00000480883.1:n.1468-6089C>T | ||
| NM_006059.3:c.4092C>T | NP_006050.3:p.Ser1364= | |
| XM_011518121.1:c.4110C>T | XP_011516423.1:p.Ser1370= | |
| NM_006059.4:c.4092C>T MANE Select | NP_006050.3:p.Ser1364= |