Linked Data
ClinVar Variation Id:
784944
dbSNP Id:
rs35622214
ExAC:
1:36932062 G / A
gnomAD v2:
1-36932062-G-A
gnomAD v3:
1-36466461-G-A
gnomAD v4:
1-36466461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36466461G>A , CM000663.2:g.36466461G>A | GRCh38 |
| NC_000001.10:g.36932062G>A , CM000663.1:g.36932062G>A | GRCh37 |
| NC_000001.9:g.36704649G>A | NCBI36 |
| NG_016270.1:g.21448C>T , LRG_144:g.21448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.2305C>T | ENSP00000435218.2:p.Pro769Ser | |
| ENST00000487540.7:c.*701C>T | ENSP00000514169.2:n.*701C>T | |
| ENST00000699089.1:n.3387C>T | ||
| ENST00000699090.1:c.2011C>T | ENSP00000514168.1:p.Pro671Ser | |
| ENST00000373106.6:c.2407C>T MANE Select | ENSP00000362198.2:p.Pro803Ser | |
| ENST00000331941.6:c.2247+160C>T | ENSP00000332180.5:n.2247+160C>T | |
| ENST00000361632.8:c.2407C>T | ENSP00000355406.4:p.Pro803Ser | |
| ENST00000373103.5:c.2488C>T | ENSP00000362195.1:p.Pro830Ser | |
| ENST00000373104.5:c.2247+160C>T | ENSP00000362196.1:n.2247+160C>T | |
| ENST00000373106.5:c.2407C>T | ENSP00000362198.1:p.Pro803Ser | |
| ENST00000464465.6:c.1062C>T | ||
| ENST00000480825.6:n.5657C>T | ||
| ENST00000487540.6:n.1588C>T | ||
| NM_000760.3:c.2407C>T | NP_000751.1:p.Pro803Ser | |
| NM_156039.3:c.2488C>T , LRG_144t1:c.2488C>T | NP_724781.1:p.Pro830Ser | |
| NM_172313.2:c.2247+160C>T | NP_758519.1:n.2247+160C>T | |
| XM_005270493.1:c.2404C>T | XP_005270550.1:p.Pro802Ser | |
| XM_011540748.1:c.2488C>T | XP_011539050.1:p.Pro830Ser | |
| XM_011540749.1:c.2485C>T | XP_011539051.1:p.Pro829Ser | |
| XM_011540750.1:c.1816C>T | XP_011539052.1:p.Pro606Ser | |
| XM_011540748.3:c.2488C>T | XP_011539050.1:p.Pro830Ser | |
| XM_017000370.1:c.2488C>T | XP_016855859.1:p.Pro830Ser | |
| NM_000760.4:c.2407C>T MANE Select | NP_000751.1:p.Pro803Ser | |
| NM_172313.3:c.2247+160C>T | NP_758519.1:n.2247+160C>T |