Linked Data
ClinVar Variation Id:
2744282
ClinVar RCV Id:
RCV003502280
dbSNP Id:
rs1171124167
gnomAD v2:
20-3869870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3889223C>T , CM000682.2:g.3889223C>T | GRCh38 |
| NC_000020.10:g.3869870C>T , CM000682.1:g.3869870C>T | GRCh37 |
| NC_000020.9:g.3817870C>T | NCBI36 |
| NG_008131.3:g.5385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316562.9:c.123C>T | ENSP00000313377.4:p.Ser41= | |
| ENST00000316562.8:c.123C>T | ENSP00000313377.4:p.Ser41= | |
| ENST00000495692.5:c.-538+207C>T | ENSP00000476745.1:n.-538+207C>T | |
| ENST00000497424.5:c.-246+319C>T | ENSP00000417609.1:n.-246+319C>T | |
| NM_024960.4:c.-246+319C>T | NP_079236.3:n.-246+319C>T | |
| NM_153638.2:c.123C>T | NP_705902.2:p.Ser41= | |
| XM_005260836.3:c.-246+207C>T | XP_005260893.3:n.-246+207C>T | |
| XM_011529364.1:c.123C>T | XP_011527666.1:p.Ser41= | |
| XM_011529365.1:c.123C>T | XP_011527667.1:p.Ser41= | |
| NM_001324191.1:c.-919C>T | NP_001311120.1:n.-919C>T | |
| NM_001324192.1:c.123C>T | NP_001311121.1:p.Ser41= | |
| NM_024960.5:c.-246+319C>T | NP_079236.3:n.-246+319C>T | |
| NM_153638.3:c.123C>T | NP_705902.2:p.Ser41= | |
| NR_136715.1:n.290C>T | ||
| XM_005260836.4:c.-246+207C>T | XP_005260893.3:n.-246+207C>T | |
| XM_011529364.3:c.123C>T | XP_011527666.1:p.Ser41= | |
| XM_011529365.2:c.123C>T | XP_011527667.1:p.Ser41= | |
| XM_017028079.2:c.-538+207C>T | XP_016883568.1:n.-538+207C>T | |
| XM_024452002.1:c.-538+319C>T | XP_024307770.1:n.-538+319C>T | |
| XR_002958533.1:n.284C>T | ||
| NM_024960.6:c.-246+319C>T | NP_079236.3:n.-246+319C>T | |
| NM_153638.4:c.123C>T | NP_705902.2:p.Ser41= |