Linked Data
ClinVar Variation Id:
1176575
dbSNP Id:
rs144458991
ExAC:
11:67925546 T / C
gnomAD v2:
11-67925546-T-C
gnomAD v3:
11-68158079-T-C
gnomAD v4:
11-68158079-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68158079T>C , CM000673.2:g.68158079T>C | GRCh38 |
| NC_000011.9:g.67925546T>C , CM000673.1:g.67925546T>C | GRCh37 |
| NC_000011.8:g.67682122T>C | NCBI36 |
| NG_052873.1:g.60694A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453170.6:c.2054A>G | ENSP00000406377.2:p.Asn685Ser | |
| ENST00000524672.3:n.2619A>G | ||
| ENST00000700520.1:c.*1891A>G | ENSP00000515027.1:n.*1891A>G | |
| ENST00000700521.1:c.*1934A>G | ENSP00000515028.1:n.*1934A>G | |
| ENST00000700522.1:c.*1934A>G | ENSP00000515029.1:n.*1934A>G | |
| ENST00000700523.1:c.1751A>G | ENSP00000515030.1:p.Asn584Ser | |
| ENST00000700524.1:c.*1475A>G | ENSP00000515031.1:n.*1475A>G | |
| ENST00000304363.9:c.2267A>G MANE Select | ENSP00000305899.4:p.Asn756Ser | |
| ENST00000304363.8:c.2267A>G | ENSP00000305899.4:p.Asn756Ser | |
| ENST00000441488.6:c.*1475A>G | ENSP00000411146.2:n.*1475A>G | |
| ENST00000615954.4:c.2267A>G | ENSP00000484858.1:p.Asn756Ser | |
| NM_001300907.1:c.1751A>G | NP_001287836.1:p.Asn584Ser | |
| NM_001300908.1:c.1547A>G | NP_001287837.1:p.Asn516Ser | |
| NM_017635.4:c.2267A>G | NP_060105.3:p.Asn756Ser | |
| XM_005274035.2:c.2267A>G | XP_005274092.2:p.Asn756Ser | |
| XM_005274036.2:c.2198A>G | XP_005274093.2:p.Asn733Ser | |
| XM_005274037.1:c.1751A>G | XP_005274094.1:p.Asn584Ser | |
| XM_006718581.1:c.2198A>G | XP_006718644.1:p.Asn733Ser | |
| XM_011545091.1:c.2267A>G | XP_011543393.1:p.Asn756Ser | |
| XM_011545092.1:c.2054A>G | XP_011543394.1:p.Asn685Ser | |
| XM_011545093.1:c.1025A>G | XP_011543395.1:p.Asn342Ser | |
| XM_005274035.4:c.2267A>G | XP_005274092.2:p.Asn756Ser | |
| XM_005274036.4:c.2198A>G | XP_005274093.2:p.Asn733Ser | |
| XM_006718581.2:c.2198A>G | XP_006718644.1:p.Asn733Ser | |
| XM_011545092.3:c.2054A>G | XP_011543394.1:p.Asn685Ser | |
| XM_017017876.2:c.1751A>G | XP_016873365.1:p.Asn584Ser | |
| XM_017017877.2:c.1751A>G | XP_016873366.1:p.Asn584Ser | |
| XM_017017878.2:c.1751A>G | XP_016873367.1:p.Asn584Ser | |
| XM_017017879.2:c.1751A>G | XP_016873368.1:p.Asn584Ser | |
| XM_024448570.1:c.1025A>G | XP_024304338.1:p.Asn342Ser | |
| NM_017635.5:c.2267A>G MANE Select | NP_060105.3:p.Asn756Ser | |
| NM_001300908.2:c.1547A>G | NP_001287837.1:p.Asn516Ser | |
| NM_001369426.1:c.2267A>G | NP_001356355.1:p.Asn756Ser | |
| NM_001369428.1:c.1751A>G | NP_001356357.1:p.Asn584Ser | |
| NM_001369429.1:c.1751A>G | NP_001356358.1:p.Asn584Ser | |
| NM_001369430.1:c.1751A>G | NP_001356359.1:p.Asn584Ser | |
| NM_001369431.1:c.1751A>G | NP_001356360.1:p.Asn584Ser | |
| NM_001369432.1:c.1751A>G | NP_001356361.1:p.Asn584Ser | |
| NM_001369433.1:c.1751A>G | NP_001356362.1:p.Asn584Ser |