Linked Data
ClinVar Variation Id:
509904
dbSNP Id:
rs1554853482
gnomAD v3:
10-62816021-G-A
gnomAD v4:
10-62816021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62816021G>A , CM000672.2:g.62816021G>A | GRCh38 |
| NC_000010.10:g.64575781G>A , CM000672.1:g.64575781G>A | GRCh37 |
| NC_000010.9:g.64245787G>A | NCBI36 |
| NG_008936.2:g.108880C>T , LRG_239:g.108880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.-91+49C>T | ENSP00000387634.1:n.-91+49C>T | |
| ENST00000439032.6:c.9C>T | ENSP00000509775.1:p.Thr3= | |
| ENST00000637191.2:c.9C>T | ENSP00000490154.2:p.Thr3= | |
| ENST00000690143.1:c.148C>T | ENSP00000510306.1:p.Arg50Cys | |
| ENST00000691610.1:c.100-52C>T | ENSP00000509830.1:n.100-52C>T | |
| ENST00000242480.4:c.9C>T MANE Select | ENSP00000242480.3:p.Thr3= | |
| ENST00000411732.3:c.-91+49C>T | ENSP00000387634.1:n.-91+49C>T | |
| ENST00000637191.1:c.9C>T | ENSP00000490154.1:p.Thr3= | |
| ENST00000639815.1:n.108+147C>T | ||
| ENST00000242480.3:c.9C>T | ENSP00000242480.3:p.Thr3= | |
| ENST00000411732.2:c.-91+49C>T | ENSP00000387634.1:n.-91+49C>T | |
| ENST00000439032.4:c.9C>T | ENSP00000402040.1:p.Thr3= | |
| ENST00000493899.2:n.542-52C>T | ||
| NM_000399.3:c.9C>T , LRG_239t1:c.9C>T | NP_000390.2:p.Thr3= | |
| NM_001136177.1:c.9C>T | NP_001129649.1:p.Thr3= | |
| NM_001136178.1:c.9C>T | NP_001129650.1:p.Thr3= | |
| NM_001136179.1:c.-91+49C>T | NP_001129651.1:n.-91+49C>T | |
| XM_011539427.1:c.100-52C>T | XP_011537729.1:n.100-52C>T | |
| XM_011539428.1:c.-90-52C>T | XP_011537730.1:n.-90-52C>T | |
| XM_011539429.1:c.-90-52C>T | XP_011537731.1:n.-90-52C>T | |
| NM_000399.4:c.9C>T | NP_000390.2:p.Thr3= | |
| NM_001136177.2:c.9C>T | NP_001129649.1:p.Thr3= | |
| NM_001136179.2:c.-91+49C>T | NP_001129651.1:n.-91+49C>T | |
| NM_001321037.1:c.-90-52C>T | NP_001307966.1:n.-90-52C>T | |
| NM_000399.5:c.9C>T MANE Select | NP_000390.2:p.Thr3= | |
| NM_001136177.3:c.9C>T | NP_001129649.1:p.Thr3= | |
| NM_001136179.3:c.-91+49C>T | NP_001129651.1:n.-91+49C>T | |
| NM_001321037.2:c.-90-52C>T | NP_001307966.1:n.-90-52C>T | |
| NM_001136178.2:c.9C>T | NP_001129650.1:p.Thr3= |