Linked Data
ClinVar Variation Id:
777281
ClinVar RCV Id:
RCV000957722
dbSNP Id:
rs8085873
ExAC:
18:8796364 G / A
gnomAD v2:
18-8796364-G-A
gnomAD v3:
18-8796366-G-A
gnomAD v4:
18-8796366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.8796366G>A , CM000680.2:g.8796366G>A | GRCh38 |
| NC_000018.9:g.8796364G>A , CM000680.1:g.8796364G>A | GRCh37 |
| NC_000018.8:g.8786364G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306329.16:c.3102G>A | ENSP00000305027.11:p.Lys1034= | |
| ENST00000695635.1:c.3102G>A | ENSP00000512072.1:p.Lys1034= | |
| ENST00000695636.1:c.3225G>A MANE Select | ENSP00000512073.1:p.Lys1075= | |
| ENST00000306329.15:c.3102G>A | ENSP00000305027.11:p.Lys1034= | |
| ENST00000359865.7:c.2145G>A | ENSP00000352927.3:p.Lys715= | |
| ENST00000400050.7:c.2145G>A | ENSP00000382924.4:p.Lys715= | |
| ENST00000517570.5:c.2022G>A | ENSP00000429556.1:p.Lys674= | |
| ENST00000518815.1:c.90G>A | ENSP00000463465.1:p.Lys30= | |
| ENST00000520495.5:c.*55G>A | ENSP00000463438.1:n.*55G>A | |
| NM_015210.3:c.2145G>A | NP_056025.2:p.Lys715= | |
| XM_005258098.2:c.3102G>A | XP_005258155.1:p.Lys1034= | |
| XM_005258099.3:c.3102G>A | XP_005258156.1:p.Lys1034= | |
| XM_011525640.1:c.3303G>A | XP_011523942.1:p.Lys1101= | |
| XM_011525641.1:c.3225G>A | XP_011523943.1:p.Lys1075= | |
| XM_005258098.4:c.2085G>A | XP_005258155.2:p.Lys695= | |
| XM_005258099.5:c.2085G>A | XP_005258156.2:p.Lys695= | |
| XM_011525640.3:c.2286G>A | XP_011523942.2:p.Lys762= | |
| XM_011525641.3:c.2208G>A | XP_011523943.2:p.Lys736= | |
| XM_017025671.2:c.2376G>A | XP_016881160.1:p.Lys792= | |
| XM_017025672.1:c.2223G>A | XP_016881161.1:p.Lys741= | |
| XM_017025673.1:c.2223G>A | XP_016881162.1:p.Lys741= | |
| XM_017025674.2:c.2223G>A | XP_016881163.1:p.Lys741= | |
| XM_017025675.1:c.2145G>A | XP_016881164.1:p.Lys715= | |
| XM_024451110.1:c.2286G>A | XP_024306878.1:p.Lys762= | |
| XM_024451111.1:c.2283G>A | XP_024306879.1:p.Lys761= | |
| XM_024451112.1:c.2208G>A | XP_024306880.1:p.Lys736= | |
| XM_024451113.1:c.2286G>A | XP_024306881.1:p.Lys762= | |
| XM_024451114.1:c.2163G>A | XP_024306882.1:p.Lys721= | |
| XM_024451115.1:c.2286G>A | XP_024306883.1:p.Lys762= | |
| XM_024451116.1:c.2286G>A | XP_024306884.1:p.Lys762= | |
| XM_024451117.1:c.2286G>A | XP_024306885.1:p.Lys762= | |
| XM_024451118.1:c.2163G>A | XP_024306886.1:p.Lys721= | |
| XM_024451119.1:c.2286G>A | XP_024306887.1:p.Lys762= | |
| XM_024451120.1:c.2286G>A | XP_024306888.1:p.Lys762= | |
| XM_024451121.1:c.2163G>A | XP_024306889.1:p.Lys721= | |
| XM_024451122.1:c.2223G>A | XP_024306890.1:p.Lys741= | |
| XM_024451123.1:c.2022G>A | XP_024306891.1:p.Lys674= | |
| XM_024451124.1:c.2286G>A | XP_024306892.1:p.Lys762= | |
| XM_024451125.1:c.135G>A | XP_024306893.1:p.Lys45= | |
| XM_024451126.1:c.135G>A | XP_024306894.1:p.Lys45= | |
| XM_024451127.1:c.135G>A | XP_024306895.1:p.Lys45= | |
| XM_024451128.1:c.135G>A | XP_024306896.1:p.Lys45= | |
| XR_002958167.1:n.2444G>A | ||
| NM_015210.4:c.2145G>A | NP_056025.2:p.Lys715= | |
| NM_001378205.1:c.3102G>A | NP_001365134.1:p.Lys1034= | |
| NM_001378206.1:c.3225G>A | NP_001365135.1:p.Lys1075= | |
| NM_001378207.1:c.3102G>A | NP_001365136.1:p.Lys1034= | |
| NM_001395220.1:c.2022G>A | NP_001382149.1:p.Lys674= | |
| NM_001395333.1:c.3225G>A MANE Select | NP_001382262.1:p.Lys1075= |