Linked Data
ClinVar Variation Id:
1089550
ClinVar RCV Id:
RCV001408414
dbSNP Id:
rs2131604834
gnomAD v4:
9-135791861-G-A
MyVariant Identifiers:
chr9:g.138683707G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135791861G>A , CM000671.2:g.135791861G>A | GRCh38 |
| NC_000009.11:g.138683707G>A , CM000671.1:g.138683707G>A | GRCh37 |
| NC_000009.10:g.137823528G>A | NCBI36 |
| NG_033070.1:g.94677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.3567G>A MANE Select | ENSP00000360822.2:p.Arg1189= | |
| ENST00000674572.1:c.3471G>A | ENSP00000501742.1:p.Arg1157= | |
| ENST00000675090.1:c.3315G>A | ENSP00000501833.1:p.Arg1105= | |
| ENST00000675399.1:c.3378G>A | ENSP00000501932.1:p.Arg1126= | |
| ENST00000676421.1:c.3387G>A | ENSP00000502322.1:p.Arg1129= | |
| ENST00000263604.5:c.3531G>A | ENSP00000263604.4:p.Arg1177= | |
| ENST00000371757.6:c.3567G>A | ENSP00000360822.2:p.Arg1189= | |
| ENST00000460750.5:c.*3240G>A | ENSP00000418777.1:n.*3240G>A | |
| ENST00000475008.1:n.2873G>A | ||
| ENST00000486577.6:c.3513G>A | ENSP00000417578.3:p.Arg1171= | |
| ENST00000487664.5:c.3630G>A | ENSP00000417851.2:p.Arg1210= | |
| ENST00000488444.6:c.3552G>A | ENSP00000419007.3:p.Arg1184= | |
| ENST00000490355.6:c.3567G>A | ENSP00000418003.3:p.Arg1189= | |
| ENST00000491806.6:c.3510G>A | ENSP00000419086.3:p.Arg1170= | |
| ENST00000628528.2:c.3495G>A | ENSP00000486374.1:p.Arg1165= | |
| ENST00000630792.2:c.3465G>A | ENSP00000486486.1:p.Arg1155= | |
| ENST00000631073.2:c.3573G>A | ENSP00000486130.1:p.Arg1191= | |
| NM_001272003.1:c.3495G>A | NP_001258932.1:p.Arg1165= | |
| NM_020822.2:c.3567G>A | NP_065873.2:p.Arg1189= | |
| XM_011518877.1:c.3765G>A | XP_011517179.1:p.Arg1255= | |
| XM_011518878.1:c.3711G>A | XP_011517180.1:p.Arg1237= | |
| XM_011518879.1:c.3702G>A | XP_011517181.1:p.Arg1234= | |
| XM_011518880.1:c.3531G>A | XP_011517182.1:p.Arg1177= | |
| XM_011518881.1:c.3120G>A | XP_011517183.1:p.Arg1040= | |
| XM_011518877.3:c.3765G>A | XP_011517179.1:p.Arg1255= | |
| XM_011518878.3:c.3711G>A | XP_011517180.1:p.Arg1237= | |
| XM_011518879.3:c.3702G>A | XP_011517181.1:p.Arg1234= | |
| XM_011518881.3:c.3120G>A | XP_011517183.1:p.Arg1040= | |
| XM_017014931.1:c.3564G>A | XP_016870420.1:p.Arg1188= | |
| XM_017014932.1:c.3387G>A | XP_016870421.1:p.Arg1129= | |
| XM_017014933.1:c.3120G>A | XP_016870422.1:p.Arg1040= | |
| XM_024447617.1:c.3120G>A | XP_024303385.1:p.Arg1040= | |
| XM_024447618.1:c.3120G>A | XP_024303386.1:p.Arg1040= | |
| NM_020822.3:c.3567G>A MANE Select | NP_065873.2:p.Arg1189= | |
| NM_001272003.2:c.3495G>A | NP_001258932.1:p.Arg1165= |