Linked Data
ClinVar Variation Id:
1721337
ClinVar RCV Id:
RCV002300326
dbSNP Id:
rs781342838
gnomAD v4:
9-135765672-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765672C>G , CM000671.2:g.135765672C>G | GRCh38 |
| NC_000009.11:g.138657518C>G , CM000671.1:g.138657518C>G | GRCh37 |
| NC_000009.10:g.137797339C>G | NCBI36 |
| NG_033070.1:g.68488C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1249C>G MANE Select | ENSP00000360822.2:p.Arg417Gly | |
| ENST00000674572.1:c.1090C>G | ENSP00000501742.1:p.Arg364Gly | |
| ENST00000675090.1:c.997C>G | ENSP00000501833.1:p.Arg333Gly | |
| ENST00000675399.1:c.997C>G | ENSP00000501932.1:p.Arg333Gly | |
| ENST00000676421.1:c.1006C>G | ENSP00000502322.1:p.Arg336Gly | |
| ENST00000263604.5:c.1150C>G | ENSP00000263604.4:p.Arg384Gly | |
| ENST00000371757.6:c.1249C>G | ENSP00000360822.2:p.Arg417Gly | |
| ENST00000460750.5:c.*859C>G | ENSP00000418777.1:n.*859C>G | |
| ENST00000486577.6:c.1132C>G | ENSP00000417578.3:p.Arg378Gly | |
| ENST00000487664.5:c.1249C>G | ENSP00000417851.2:p.Arg417Gly | |
| ENST00000488444.6:c.1192C>G | ENSP00000419007.3:p.Arg398Gly | |
| ENST00000490355.6:c.1192C>G | ENSP00000418003.3:p.Arg398Gly | |
| ENST00000490363.3:n.1068C>G | ||
| ENST00000491806.6:c.1192C>G | ENSP00000419086.3:p.Arg398Gly | |
| ENST00000628528.2:c.1114C>G | ENSP00000486374.1:p.Arg372Gly | |
| ENST00000630792.2:c.1090C>G | ENSP00000486486.1:p.Arg364Gly | |
| ENST00000631073.2:c.1192C>G | ENSP00000486130.1:p.Arg398Gly | |
| NM_001272003.1:c.1114C>G | NP_001258932.1:p.Arg372Gly | |
| NM_020822.2:c.1249C>G | NP_065873.2:p.Arg417Gly | |
| XM_011518877.1:c.1384C>G | XP_011517179.1:p.Arg462Gly | |
| XM_011518878.1:c.1393C>G | XP_011517180.1:p.Arg465Gly | |
| XM_011518879.1:c.1384C>G | XP_011517181.1:p.Arg462Gly | |
| XM_011518880.1:c.1150C>G | XP_011517182.1:p.Arg384Gly | |
| XM_011518881.1:c.739C>G | XP_011517183.1:p.Arg247Gly | |
| XM_011518877.3:c.1384C>G | XP_011517179.1:p.Arg462Gly | |
| XM_011518878.3:c.1393C>G | XP_011517180.1:p.Arg465Gly | |
| XM_011518879.3:c.1384C>G | XP_011517181.1:p.Arg462Gly | |
| XM_011518881.3:c.739C>G | XP_011517183.1:p.Arg247Gly | |
| XM_017014931.1:c.1183C>G | XP_016870420.1:p.Arg395Gly | |
| XM_017014932.1:c.1006C>G | XP_016870421.1:p.Arg336Gly | |
| XM_017014933.1:c.739C>G | XP_016870422.1:p.Arg247Gly | |
| XM_024447617.1:c.739C>G | XP_024303385.1:p.Arg247Gly | |
| XM_024447618.1:c.739C>G | XP_024303386.1:p.Arg247Gly | |
| NM_020822.3:c.1249C>G MANE Select | NP_065873.2:p.Arg417Gly | |
| NM_001272003.2:c.1114C>G | NP_001258932.1:p.Arg372Gly |