Linked Data
ClinVar Variation Id:
386260
ClinVar RCV Id:
RCV002313096
dbSNP Id:
rs141281093
ExAC:
9:138662861 G / A
gnomAD v2:
9-138662861-G-A
gnomAD v3:
9-135771015-G-A
gnomAD v4:
9-135771015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135771015G>A , CM000671.2:g.135771015G>A | GRCh38 |
| NC_000009.11:g.138662861G>A , CM000671.1:g.138662861G>A | GRCh37 |
| NC_000009.10:g.137802682G>A | NCBI36 |
| NG_033070.1:g.73831G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.1928G>A MANE Select | ENSP00000360822.2:p.Arg643Gln | |
| ENST00000674572.1:c.1769G>A | ENSP00000501742.1:p.Arg590Gln | |
| ENST00000675090.1:c.1676G>A | ENSP00000501833.1:p.Arg559Gln | |
| ENST00000675399.1:c.1676G>A | ENSP00000501932.1:p.Arg559Gln | |
| ENST00000676421.1:c.1685G>A | ENSP00000502322.1:p.Arg562Gln | |
| ENST00000263604.5:c.1829G>A | ENSP00000263604.4:p.Arg610Gln | |
| ENST00000371757.6:c.1928G>A | ENSP00000360822.2:p.Arg643Gln | |
| ENST00000460750.5:c.*1538G>A | ENSP00000418777.1:n.*1538G>A | |
| ENST00000486577.6:c.1811G>A | ENSP00000417578.3:p.Arg604Gln | |
| ENST00000487664.5:c.1928G>A | ENSP00000417851.2:p.Arg643Gln | |
| ENST00000488444.6:c.1871G>A | ENSP00000419007.3:p.Arg624Gln | |
| ENST00000490355.6:c.1871G>A | ENSP00000418003.3:p.Arg624Gln | |
| ENST00000490363.3:n.1747G>A | ||
| ENST00000491806.6:c.1871G>A | ENSP00000419086.3:p.Arg624Gln | |
| ENST00000628528.2:c.1793G>A | ENSP00000486374.1:p.Arg598Gln | |
| ENST00000630792.2:c.1769G>A | ENSP00000486486.1:p.Arg590Gln | |
| ENST00000631073.2:c.1871G>A | ENSP00000486130.1:p.Arg624Gln | |
| NM_001272003.1:c.1793G>A | NP_001258932.1:p.Arg598Gln | |
| NM_020822.2:c.1928G>A | NP_065873.2:p.Arg643Gln | |
| XM_011518877.1:c.2063G>A | XP_011517179.1:p.Arg688Gln | |
| XM_011518878.1:c.2072G>A | XP_011517180.1:p.Arg691Gln | |
| XM_011518879.1:c.2063G>A | XP_011517181.1:p.Arg688Gln | |
| XM_011518880.1:c.1829G>A | XP_011517182.1:p.Arg610Gln | |
| XM_011518881.1:c.1418G>A | XP_011517183.1:p.Arg473Gln | |
| XM_011518877.3:c.2063G>A | XP_011517179.1:p.Arg688Gln | |
| XM_011518878.3:c.2072G>A | XP_011517180.1:p.Arg691Gln | |
| XM_011518879.3:c.2063G>A | XP_011517181.1:p.Arg688Gln | |
| XM_011518881.3:c.1418G>A | XP_011517183.1:p.Arg473Gln | |
| XM_017014931.1:c.1862G>A | XP_016870420.1:p.Arg621Gln | |
| XM_017014932.1:c.1685G>A | XP_016870421.1:p.Arg562Gln | |
| XM_017014933.1:c.1418G>A | XP_016870422.1:p.Arg473Gln | |
| XM_024447617.1:c.1418G>A | XP_024303385.1:p.Arg473Gln | |
| XM_024447618.1:c.1418G>A | XP_024303386.1:p.Arg473Gln | |
| NM_020822.3:c.1928G>A MANE Select | NP_065873.2:p.Arg643Gln | |
| NM_001272003.2:c.1793G>A | NP_001258932.1:p.Arg598Gln |