Linked Data
ClinVar Variation Id:
1966008
ClinVar RCV Id:
RCV002711525
dbSNP Id:
rs1463012063
gnomAD v2:
3-12632350-C-G
gnomAD v3:
3-12590851-C-G
gnomAD v4:
3-12590851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590851C>G , CM000665.2:g.12590851C>G | GRCh38 |
| NC_000003.11:g.12632350C>G , CM000665.1:g.12632350C>G | GRCh37 |
| NC_000003.10:g.12607350C>G | NCBI36 |
| NG_007467.1:g.78329G>C , LRG_413:g.78329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*982G>C | ENSP00000401088.1:n.*982G>C | |
| ENST00000432427.3:c.634G>C | ||
| ENST00000460610.2:n.111G>C | ||
| ENST00000465826.6:n.908G>C | ||
| ENST00000475353.2:n.1239G>C | ||
| ENST00000494557.2:n.1128G>C | ||
| ENST00000684903.1:c.*994G>C | ENSP00000508612.1:n.*994G>C | |
| ENST00000685348.1:c.*994G>C | ENSP00000510285.1:n.*994G>C | |
| ENST00000685437.1:c.1218G>C | ENSP00000508794.1:p.Lys406Asn | |
| ENST00000685653.1:c.1317G>C | ENSP00000509968.1:p.Lys439Asn | |
| ENST00000685738.1:c.*281G>C | ENSP00000510156.1:n.*281G>C | |
| ENST00000686409.1:n.2368G>C | ||
| ENST00000686455.1:n.1680G>C | ||
| ENST00000686762.1:c.1317G>C | ENSP00000509767.1:p.Lys439Asn | |
| ENST00000687257.1:n.1553G>C | ||
| ENST00000687326.1:c.*251G>C | ENSP00000509665.1:n.*251G>C | |
| ENST00000687505.1:n.1435G>C | ||
| ENST00000687923.1:c.1206G>C | ENSP00000510255.1:p.Lys402Asn | |
| ENST00000687940.1:n.1694G>C | ||
| ENST00000688269.1:n.1913G>C | ||
| ENST00000688326.1:c.750G>C | ||
| ENST00000688444.1:n.1643G>C | ||
| ENST00000688543.1:c.1218G>C | ENSP00000509612.1:p.Lys406Asn | |
| ENST00000688625.1:c.*895G>C | ENSP00000509522.1:n.*895G>C | |
| ENST00000688803.1:n.1548G>C | ||
| ENST00000688914.1:n.303G>C | ||
| ENST00000689097.1:c.*994G>C | ENSP00000509756.1:n.*994G>C | |
| ENST00000689389.1:c.1193+857G>C | ENSP00000510213.1:n.1193+857G>C | |
| ENST00000689418.1:c.*994G>C | ENSP00000509467.1:n.*994G>C | |
| ENST00000689481.1:c.*994G>C | ENSP00000510248.1:n.*994G>C | |
| ENST00000689540.1:n.1467G>C | ||
| ENST00000689876.1:c.1317G>C | ENSP00000508535.1:p.Lys439Asn | |
| ENST00000689914.1:c.*251G>C | ENSP00000509847.1:n.*251G>C | |
| ENST00000690397.1:c.1206G>C | ENSP00000508730.1:p.Lys402Asn | |
| ENST00000690460.1:c.1305G>C | ENSP00000509106.1:p.Lys435Asn | |
| ENST00000690585.1:c.209G>C | ||
| ENST00000690625.1:n.2353G>C | ||
| ENST00000691396.1:c.*1169G>C | ENSP00000510712.1:n.*1169G>C | |
| ENST00000691724.1:c.*274G>C | ENSP00000509255.1:n.*274G>C | |
| ENST00000691779.1:c.*895G>C | ENSP00000508592.1:n.*895G>C | |
| ENST00000691888.1:c.209G>C | ||
| ENST00000691899.1:c.1317G>C | ENSP00000508763.1:p.Lys439Asn | |
| ENST00000692069.1:n.1883G>C | ||
| ENST00000692093.1:c.1218G>C | ENSP00000509669.1:p.Lys406Asn | |
| ENST00000692311.1:n.2141G>C | ||
| ENST00000692558.1:n.1682G>C | ||
| ENST00000692773.1:c.*1054G>C | ENSP00000509055.1:n.*1054G>C | |
| ENST00000692830.1:c.*1062G>C | ENSP00000509461.1:n.*1062G>C | |
| ENST00000693069.1:c.*251G>C | ENSP00000510072.1:n.*251G>C | |
| ENST00000693312.1:c.1092G>C | ENSP00000508686.1:p.Lys364Asn | |
| ENST00000693664.1:c.1317G>C | ENSP00000509614.1:p.Lys439Asn | |
| ENST00000693705.1:c.*994G>C | ENSP00000510697.1:n.*994G>C | |
| ENST00000251849.9:c.1317G>C MANE Select | ENSP00000251849.4:p.Lys439Asn | |
| ENST00000442415.7:c.1377G>C | ENSP00000401888.2:p.Lys459Asn | |
| ENST00000251849.8:c.1317G>C | ENSP00000251849.4:p.Lys439Asn | |
| ENST00000423275.5:c.*994G>C | ENSP00000401088.1:n.*994G>C | |
| ENST00000432427.2:c.954G>C | ENSP00000398591.2:p.Lys318Asn | |
| ENST00000442415.6:c.1377G>C | ENSP00000401888.2:p.Lys459Asn | |
| ENST00000460610.1:n.274G>C | ||
| ENST00000465826.5:n.674G>C | ||
| ENST00000475353.1:n.485G>C | ||
| ENST00000494557.1:n.333G>C | ||
| NM_002880.3:c.1317G>C , LRG_413t1:c.1317G>C | NP_002871.1:p.Lys439Asn | |
| XM_005265355.1:c.1317G>C | XP_005265412.1:p.Lys439Asn | |
| XM_005265357.1:c.1218G>C | XP_005265414.1:p.Lys406Asn | |
| XM_005265358.3:c.1074G>C | XP_005265415.1:p.Lys358Asn | |
| XM_005265359.3:c.975G>C | XP_005265416.1:p.Lys325Asn | |
| XM_005265360.1:c.1317G>C | XP_005265417.1:p.Lys439Asn | |
| XM_011533974.1:c.1317G>C | XP_011532276.1:p.Lys439Asn | |
| XM_011533975.1:c.1074G>C | XP_011532277.1:p.Lys358Asn | |
| NM_001354689.1:c.1377G>C | NP_001341618.1:p.Lys459Asn | |
| NM_001354690.1:c.1317G>C | NP_001341619.1:p.Lys439Asn | |
| NM_001354691.1:c.1074G>C | NP_001341620.1:p.Lys358Asn | |
| NM_001354692.1:c.1074G>C | NP_001341621.1:p.Lys358Asn | |
| NM_001354693.1:c.1218G>C | NP_001341622.1:p.Lys406Asn | |
| NM_001354694.1:c.1134G>C | NP_001341623.1:p.Lys378Asn | |
| NM_001354695.1:c.975G>C | NP_001341624.1:p.Lys325Asn | |
| NR_148940.1:n.1845G>C | ||
| NR_148941.1:n.1791G>C | ||
| NR_148942.1:n.1730G>C | ||
| XM_011533974.3:c.1317G>C | XP_011532276.1:p.Lys439Asn | |
| XM_017006966.1:c.1218G>C | XP_016862455.1:p.Lys406Asn | |
| NM_001354689.3:c.1377G>C | NP_001341618.1:p.Lys459Asn | |
| NM_001354690.2:c.1317G>C | NP_001341619.1:p.Lys439Asn | |
| NM_001354691.2:c.1074G>C | NP_001341620.1:p.Lys358Asn | |
| NM_001354692.2:c.1074G>C | NP_001341621.1:p.Lys358Asn | |
| NM_001354693.2:c.1218G>C | NP_001341622.1:p.Lys406Asn | |
| NM_001354694.2:c.1134G>C | NP_001341623.1:p.Lys378Asn | |
| NM_001354695.2:c.975G>C | NP_001341624.1:p.Lys325Asn | |
| NR_148940.2:n.1761G>C | ||
| NR_148941.2:n.1707G>C | ||
| NR_148942.2:n.1646G>C | ||
| NM_001354690.3:c.1317G>C | NP_001341619.1:p.Lys439Asn | |
| NM_001354691.3:c.1074G>C | NP_001341620.1:p.Lys358Asn | |
| NM_001354692.3:c.1074G>C | NP_001341621.1:p.Lys358Asn | |
| NM_001354693.3:c.1218G>C | NP_001341622.1:p.Lys406Asn | |
| NM_001354694.3:c.1134G>C | NP_001341623.1:p.Lys378Asn | |
| NM_001354695.3:c.975G>C | NP_001341624.1:p.Lys325Asn | |
| NM_002880.4:c.1317G>C MANE Select | NP_002871.1:p.Lys439Asn | |
| NR_148940.3:n.1761G>C | ||
| NR_148941.3:n.1707G>C | ||
| NR_148942.3:n.1646G>C |