Linked Data
ClinVar Variation Id:
45560
dbSNP Id:
rs45603139
ExAC:
10:88466345 C / T
gnomAD v2:
10-88466345-C-T
gnomAD v3:
10-86706588-C-T
gnomAD v4:
10-86706588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86706588C>T , CM000672.2:g.86706588C>T | GRCh38 |
| NC_000010.10:g.88466345C>T , CM000672.1:g.88466345C>T | GRCh37 |
| NC_000010.9:g.88456325C>T | NCBI36 |
| NG_008876.1:g.43025C>T , LRG_385:g.43025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687154.1:n.515-12139C>T | ||
| ENST00000688001.1:c.897-3317C>T | ENSP00000508987.1:n.897-3317C>T | |
| ENST00000689296.1:c.897-3317C>T | ENSP00000510609.1:n.897-3317C>T | |
| ENST00000689740.1:c.813C>T | ENSP00000510300.1:p.Pro271= | |
| ENST00000693680.1:c.813C>T | ENSP00000509539.1:p.Pro271= | |
| ENST00000361373.9:c.954C>T MANE Select | ENSP00000355296.3:p.Pro318= | |
| ENST00000429277.7:c.756-3317C>T | ENSP00000401437.3:n.756-3317C>T | |
| ENST00000623056.4:c.1101-3317C>T | ENSP00000485500.1:n.1101-3317C>T | |
| ENST00000263066.10:c.756-3317C>T | ENSP00000263066.6:n.756-3317C>T | |
| ENST00000361373.8:c.954C>T | ENSP00000355296.3:p.Pro318= | |
| ENST00000429277.6:c.1101-3317C>T | ENSP00000401437.2:n.1101-3317C>T | |
| ENST00000623056.3:c.1101-3317C>T | ENSP00000485500.1:n.1101-3317C>T | |
| NM_001080114.1:c.756-3317C>T | NP_001073583.1:n.756-3317C>T | |
| NM_001171610.1:c.1101-3317C>T | NP_001165081.1:n.1101-3317C>T | |
| NM_007078.2:c.954C>T , LRG_385t1:c.954C>T | NP_009009.1:p.Pro318= | |
| XM_005269464.3:c.954C>T | XP_005269521.1:p.Pro318= | |
| XM_005269466.3:c.897-3317C>T | XP_005269523.1:n.897-3317C>T | |
| XM_011539184.1:c.1158C>T | XP_011537486.1:p.Pro386= | |
| XM_011539185.1:c.1158C>T | XP_011537487.1:p.Pro386= | |
| XM_011539186.1:c.1158C>T | XP_011537488.1:p.Pro386= | |
| XM_011539187.1:c.1101-3317C>T | XP_011537489.1:n.1101-3317C>T | |
| XM_011539188.1:c.954C>T | XP_011537490.1:p.Pro318= | |
| XM_011539189.1:c.813C>T | XP_011537491.1:p.Pro271= | |
| XM_011539190.1:c.813C>T | XP_011537492.1:p.Pro271= | |
| XM_011539191.1:c.624C>T | XP_011537493.1:p.Pro208= | |
| XM_011539192.1:c.609C>T | XP_011537494.1:p.Pro203= | |
| XM_011539193.1:c.114C>T | XP_011537495.1:p.Pro38= | |
| XM_011539194.1:c.57-3317C>T | XP_011537496.1:n.57-3317C>T | |
| XM_005269464.4:c.954C>T | XP_005269521.1:p.Pro318= | |
| XM_005269466.4:c.897-3317C>T | XP_005269523.1:n.897-3317C>T | |
| XM_011539184.2:c.1158C>T | XP_011537486.1:p.Pro386= | |
| XM_011539185.2:c.1158C>T | XP_011537487.1:p.Pro386= | |
| XM_011539186.2:c.1158C>T | XP_011537488.1:p.Pro386= | |
| XM_011539187.2:c.1101-3317C>T | XP_011537489.1:n.1101-3317C>T | |
| XM_011539188.2:c.954C>T | XP_011537490.1:p.Pro318= | |
| XM_011539190.2:c.813C>T | XP_011537492.1:p.Pro271= | |
| XM_011539191.2:c.624C>T | XP_011537493.1:p.Pro208= | |
| XM_017015606.1:c.954C>T | XP_016871095.1:p.Pro318= | |
| XM_017015607.1:c.114C>T | XP_016871096.1:p.Pro38= | |
| XM_024447785.1:c.813C>T | XP_024303553.1:p.Pro271= | |
| XM_024447786.1:c.756-3317C>T | XP_024303554.1:n.756-3317C>T | |
| NM_001080114.2:c.756-3317C>T | NP_001073583.1:n.756-3317C>T | |
| NM_001171610.2:c.1101-3317C>T | NP_001165081.1:n.1101-3317C>T | |
| NM_001368064.1:c.897-3317C>T | NP_001354993.1:n.897-3317C>T | |
| NM_001368065.1:c.897-3317C>T | NP_001354994.1:n.897-3317C>T | |
| NM_001368066.1:c.813C>T | NP_001354995.1:p.Pro271= | |
| NM_007078.3:c.954C>T MANE Select | NP_009009.1:p.Pro318= |