Linked Data
ClinVar Variation Id:
126751
ClinVar RCV Id:
RCV001030107
dbSNP Id:
rs515726119
ExAC:
16:23652404 C / A
gnomAD v2:
16-23652404-C-A
gnomAD v3:
16-23641083-C-A
gnomAD v4:
16-23641083-C-A
PubMed:
PMID:22241545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641083C>A , CM000678.2:g.23641083C>A | GRCh38 |
| NC_000016.9:g.23652404C>A , CM000678.1:g.23652404C>A | GRCh37 |
| NC_000016.8:g.23559905C>A | NCBI36 |
| NG_007406.1:g.5275G>T , LRG_308:g.5275G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-778G>T | ENSP00000460666.3:n.-778G>T | |
| ENST00000565038.2:c.48+27G>T | ENSP00000459882.2:n.48+27G>T | |
| ENST00000566069.6:c.48+27G>T | ENSP00000459237.2:n.48+27G>T | |
| ENST00000697377.2:c.-192+27G>T | ENSP00000513286.2:n.-192+27G>T | |
| ENST00000697379.2:c.-98+27G>T | ENSP00000513287.2:n.-98+27G>T | |
| ENST00000561514.2:c.-1669G>T | ENSP00000460666.2:n.-1669G>T | |
| ENST00000697374.1:c.-1260G>T | ENSP00000513284.1:n.-1260G>T | |
| ENST00000697376.1:c.-1008+27G>T | ENSP00000513285.1:n.-1008+27G>T | |
| ENST00000697377.1:c.-1083+27G>T | ENSP00000513286.1:n.-1083+27G>T | |
| ENST00000697379.1:c.-989+27G>T | ENSP00000513287.1:n.-989+27G>T | |
| ENST00000697382.1:c.-1720G>T | ENSP00000513288.1:n.-1720G>T | |
| ENST00000697383.1:c.48+27G>T | ENSP00000513289.1:n.48+27G>T | |
| ENST00000697384.1:n.202+27G>T | ||
| ENST00000261584.9:c.48+27G>T MANE Select | ENSP00000261584.4:n.48+27G>T | |
| ENST00000261584.8:c.48+27G>T | ENSP00000261584.4:n.48+27G>T | |
| ENST00000567003.1:n.192+27G>T | ||
| ENST00000568219.5:c.-838+44G>T | ENSP00000454703.2:n.-838+44G>T | |
| NM_024675.3:c.48+27G>T , LRG_308t1:c.48+27G>T | NP_078951.2:n.48+27G>T | |
| XM_011545946.1:c.-778G>T | XP_011544248.1:n.-778G>T | |
| XM_011545947.1:c.-778G>T | XP_011544249.1:n.-778G>T | |
| XM_011545948.1:c.-972+27G>T | XP_011544250.1:n.-972+27G>T | |
| XR_950851.1:n.13G>T | ||
| XM_011545946.2:c.-778G>T | XP_011544248.1:n.-778G>T | |
| XM_011545947.2:c.-778G>T | XP_011544249.1:n.-778G>T | |
| XM_011545948.2:c.-972+27G>T | XP_011544250.1:n.-972+27G>T | |
| XM_017023671.1:c.-778G>T | XP_016879160.1:n.-778G>T | |
| XM_017023672.2:c.48+27G>T | XP_016879161.1:n.48+27G>T | |
| XM_017023673.2:c.48+27G>T | XP_016879162.1:n.48+27G>T | |
| NM_024675.4:c.48+27G>T MANE Select | NP_078951.2:n.48+27G>T |