Linked Data
ClinVar Variation Id:
756283
ClinVar RCV Id:
RCV000933765
dbSNP Id:
rs373755663
gnomAD v2:
9-138657551-C-A
gnomAD v3:
9-135765705-C-A
gnomAD v4:
9-135765705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765705C>A , CM000671.2:g.135765705C>A | GRCh38 |
| NC_000009.11:g.138657551C>A , CM000671.1:g.138657551C>A | GRCh37 |
| NC_000009.10:g.137797372C>A | NCBI36 |
| NG_033070.1:g.68521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1282C>A MANE Select | ENSP00000360822.2:p.Arg428= | |
| ENST00000636995.1:n.9C>A | ||
| ENST00000637798.1:n.21C>A | ||
| ENST00000674572.1:c.1123C>A | ENSP00000501742.1:p.Arg375= | |
| ENST00000675090.1:c.1030C>A | ENSP00000501833.1:p.Arg344= | |
| ENST00000675399.1:c.1030C>A | ENSP00000501932.1:p.Arg344= | |
| ENST00000676421.1:c.1039C>A | ENSP00000502322.1:p.Arg347= | |
| ENST00000263604.5:c.1183C>A | ENSP00000263604.4:p.Arg395= | |
| ENST00000371757.6:c.1282C>A | ENSP00000360822.2:p.Arg428= | |
| ENST00000460750.5:c.*892C>A | ENSP00000418777.1:n.*892C>A | |
| ENST00000486577.6:c.1165C>A | ENSP00000417578.3:p.Arg389= | |
| ENST00000487664.5:c.1282C>A | ENSP00000417851.2:p.Arg428= | |
| ENST00000488444.6:c.1225C>A | ENSP00000419007.3:p.Arg409= | |
| ENST00000490355.6:c.1225C>A | ENSP00000418003.3:p.Arg409= | |
| ENST00000490363.3:n.1101C>A | ||
| ENST00000491806.6:c.1225C>A | ENSP00000419086.3:p.Arg409= | |
| ENST00000628528.2:c.1147C>A | ENSP00000486374.1:p.Arg383= | |
| ENST00000630792.2:c.1123C>A | ENSP00000486486.1:p.Arg375= | |
| ENST00000631073.2:c.1225C>A | ENSP00000486130.1:p.Arg409= | |
| NM_001272003.1:c.1147C>A | NP_001258932.1:p.Arg383= | |
| NM_020822.2:c.1282C>A | NP_065873.2:p.Arg428= | |
| XM_011518877.1:c.1417C>A | XP_011517179.1:p.Arg473= | |
| XM_011518878.1:c.1426C>A | XP_011517180.1:p.Arg476= | |
| XM_011518879.1:c.1417C>A | XP_011517181.1:p.Arg473= | |
| XM_011518880.1:c.1183C>A | XP_011517182.1:p.Arg395= | |
| XM_011518881.1:c.772C>A | XP_011517183.1:p.Arg258= | |
| XM_011518877.3:c.1417C>A | XP_011517179.1:p.Arg473= | |
| XM_011518878.3:c.1426C>A | XP_011517180.1:p.Arg476= | |
| XM_011518879.3:c.1417C>A | XP_011517181.1:p.Arg473= | |
| XM_011518881.3:c.772C>A | XP_011517183.1:p.Arg258= | |
| XM_017014931.1:c.1216C>A | XP_016870420.1:p.Arg406= | |
| XM_017014932.1:c.1039C>A | XP_016870421.1:p.Arg347= | |
| XM_017014933.1:c.772C>A | XP_016870422.1:p.Arg258= | |
| XM_024447617.1:c.772C>A | XP_024303385.1:p.Arg258= | |
| XM_024447618.1:c.772C>A | XP_024303386.1:p.Arg258= | |
| NM_020822.3:c.1282C>A MANE Select | NP_065873.2:p.Arg428= | |
| NM_001272003.2:c.1147C>A | NP_001258932.1:p.Arg383= |