Linked Data
ClinVar Variation Id:
136128
dbSNP Id:
rs567706422
ExAC:
16:23652467 A / G
gnomAD v2:
16-23652467-A-G
gnomAD v3:
16-23641146-A-G
gnomAD v4:
16-23641146-A-G
PubMed:
PMID:26283626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641146A>G , CM000678.2:g.23641146A>G | GRCh38 |
| NC_000016.9:g.23652467A>G , CM000678.1:g.23652467A>G | GRCh37 |
| NC_000016.8:g.23559968A>G | NCBI36 |
| NG_007406.1:g.5212T>C , LRG_308:g.5212T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-841T>C | ENSP00000460666.3:n.-841T>C | |
| ENST00000565038.2:c.12T>C | ENSP00000459882.2:p.Pro4= | |
| ENST00000566069.6:c.12T>C | ENSP00000459237.2:p.Pro4= | |
| ENST00000697377.2:c.-228T>C | ENSP00000513286.2:n.-228T>C | |
| ENST00000697379.2:c.-134T>C | ENSP00000513287.2:n.-134T>C | |
| ENST00000561514.2:c.-1732T>C | ENSP00000460666.2:n.-1732T>C | |
| ENST00000697374.1:c.-1323T>C | ENSP00000513284.1:n.-1323T>C | |
| ENST00000697376.1:c.-1044T>C | ENSP00000513285.1:n.-1044T>C | |
| ENST00000697377.1:c.-1119T>C | ENSP00000513286.1:n.-1119T>C | |
| ENST00000697379.1:c.-1025T>C | ENSP00000513287.1:n.-1025T>C | |
| ENST00000697382.1:c.-1783T>C | ENSP00000513288.1:n.-1783T>C | |
| ENST00000697383.1:c.12T>C | ENSP00000513289.1:p.Pro4= | |
| ENST00000697384.1:n.166T>C | ||
| ENST00000261584.9:c.12T>C MANE Select | ENSP00000261584.4:p.Pro4= | |
| ENST00000261584.8:c.12T>C | ENSP00000261584.4:p.Pro4= | |
| ENST00000567003.1:n.156T>C | ||
| ENST00000568219.5:c.-857T>C | ENSP00000454703.2:n.-857T>C | |
| NM_024675.3:c.12T>C , LRG_308t1:c.12T>C | NP_078951.2:p.Pro4= | |
| XM_011545948.1:c.-1008T>C | XP_011544250.1:n.-1008T>C | |
| XM_011545946.2:c.-841T>C | XP_011544248.1:n.-841T>C | |
| XM_011545947.2:c.-841T>C | XP_011544249.1:n.-841T>C | |
| XM_011545948.2:c.-1008T>C | XP_011544250.1:n.-1008T>C | |
| XM_017023671.1:c.-841T>C | XP_016879160.1:n.-841T>C | |
| XM_017023672.2:c.12T>C | XP_016879161.1:p.Pro4= | |
| XM_017023673.2:c.12T>C | XP_016879162.1:p.Pro4= | |
| NM_024675.4:c.12T>C MANE Select | NP_078951.2:p.Pro4= |