Linked Data
ClinVar Variation Id:
378037
dbSNP Id:
rs200173000
ExAC:
9:138662152 A / G
gnomAD v2:
9-138662152-A-G
gnomAD v3:
9-135770306-A-G
gnomAD v4:
9-135770306-A-G
COSMIC:
COSM328266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770306A>G , CM000671.2:g.135770306A>G | GRCh38 |
| NC_000009.11:g.138662152A>G , CM000671.1:g.138662152A>G | GRCh37 |
| NC_000009.10:g.137801973A>G | NCBI36 |
| NG_033070.1:g.73122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1628A>G MANE Select | ENSP00000360822.2:p.Gln543Arg | |
| ENST00000674572.1:c.1469A>G | ENSP00000501742.1:p.Gln490Arg | |
| ENST00000675090.1:c.1376A>G | ENSP00000501833.1:p.Gln459Arg | |
| ENST00000675399.1:c.1376A>G | ENSP00000501932.1:p.Gln459Arg | |
| ENST00000676421.1:c.1385A>G | ENSP00000502322.1:p.Gln462Arg | |
| ENST00000263604.5:c.1529A>G | ENSP00000263604.4:p.Gln510Arg | |
| ENST00000371757.6:c.1628A>G | ENSP00000360822.2:p.Gln543Arg | |
| ENST00000460750.5:c.*1238A>G | ENSP00000418777.1:n.*1238A>G | |
| ENST00000486577.6:c.1511A>G | ENSP00000417578.3:p.Gln504Arg | |
| ENST00000487664.5:c.1628A>G | ENSP00000417851.2:p.Gln543Arg | |
| ENST00000488444.6:c.1571A>G | ENSP00000419007.3:p.Gln524Arg | |
| ENST00000490355.6:c.1571A>G | ENSP00000418003.3:p.Gln524Arg | |
| ENST00000490363.3:n.1447A>G | ||
| ENST00000491806.6:c.1571A>G | ENSP00000419086.3:p.Gln524Arg | |
| ENST00000628528.2:c.1493A>G | ENSP00000486374.1:p.Gln498Arg | |
| ENST00000630792.2:c.1469A>G | ENSP00000486486.1:p.Gln490Arg | |
| ENST00000631073.2:c.1571A>G | ENSP00000486130.1:p.Gln524Arg | |
| NM_001272003.1:c.1493A>G | NP_001258932.1:p.Gln498Arg | |
| NM_020822.2:c.1628A>G | NP_065873.2:p.Gln543Arg | |
| XM_011518877.1:c.1763A>G | XP_011517179.1:p.Gln588Arg | |
| XM_011518878.1:c.1772A>G | XP_011517180.1:p.Gln591Arg | |
| XM_011518879.1:c.1763A>G | XP_011517181.1:p.Gln588Arg | |
| XM_011518880.1:c.1529A>G | XP_011517182.1:p.Gln510Arg | |
| XM_011518881.1:c.1118A>G | XP_011517183.1:p.Gln373Arg | |
| XM_011518877.3:c.1763A>G | XP_011517179.1:p.Gln588Arg | |
| XM_011518878.3:c.1772A>G | XP_011517180.1:p.Gln591Arg | |
| XM_011518879.3:c.1763A>G | XP_011517181.1:p.Gln588Arg | |
| XM_011518881.3:c.1118A>G | XP_011517183.1:p.Gln373Arg | |
| XM_017014931.1:c.1562A>G | XP_016870420.1:p.Gln521Arg | |
| XM_017014932.1:c.1385A>G | XP_016870421.1:p.Gln462Arg | |
| XM_017014933.1:c.1118A>G | XP_016870422.1:p.Gln373Arg | |
| XM_024447617.1:c.1118A>G | XP_024303385.1:p.Gln373Arg | |
| XM_024447618.1:c.1118A>G | XP_024303386.1:p.Gln373Arg | |
| NM_020822.3:c.1628A>G MANE Select | NP_065873.2:p.Gln543Arg | |
| NM_001272003.2:c.1493A>G | NP_001258932.1:p.Gln498Arg |