Linked Data
ClinVar Variation Id:
1624847
ClinVar RCV Id:
RCV002106401
dbSNP Id:
rs1845728736
MyVariant Identifiers:
chr9:g.135782751T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132907364T>G , CM000671.2:g.132907364T>G | GRCh38 |
| NC_000009.11:g.135782751T>G , CM000671.1:g.135782751T>G | GRCh37 |
| NC_000009.10:g.134772572T>G | NCBI36 |
| NG_012386.1:g.42270A>C , LRG_486:g.42270A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.1267A>C | ENSP00000496126.2:p.Arg423= | |
| ENST00000490179.4:c.1270A>C | ENSP00000495533.2:p.Arg424= | |
| ENST00000642261.2:c.1270A>C | ENSP00000494743.2:p.Arg424= | |
| ENST00000643275.2:c.1270A>C | ENSP00000495598.2:p.Arg424= | |
| ENST00000643362.2:c.883A>C | ENSP00000496398.2:p.Arg295= | |
| ENST00000643625.2:c.1270A>C | ENSP00000495546.2:p.Arg424= | |
| ENST00000643691.2:c.907A>C | ENSP00000494916.2:p.Arg303= | |
| ENST00000644184.2:c.1270A>C | ENSP00000495428.2:p.Arg424= | |
| ENST00000645129.2:c.1114A>C | ENSP00000493639.2:p.Arg372= | |
| ENST00000646440.2:c.1270A>C | ENSP00000495830.2:p.Arg424= | |
| ENST00000298552.9:c.1270A>C MANE Select | ENSP00000298552.3:p.Arg424= | |
| ENST00000642344.1:c.*1011A>C | ENSP00000494847.1:n.*1011A>C | |
| ENST00000642617.1:c.1267A>C | ENSP00000493773.1:p.Arg423= | |
| ENST00000642627.1:c.1267A>C | ENSP00000496772.1:p.Arg423= | |
| ENST00000642811.1:c.*1040A>C | ENSP00000495554.1:n.*1040A>C | |
| ENST00000643072.1:c.1117A>C | ENSP00000496691.1:p.Arg373= | |
| ENST00000643362.1:c.883A>C | ENSP00000496398.1:p.Arg295= | |
| ENST00000643583.1:c.1270A>C | ENSP00000494685.1:p.Arg424= | |
| ENST00000643875.1:c.1270A>C | ENSP00000495158.1:p.Arg424= | |
| ENST00000644097.1:c.1267A>C | ENSP00000494682.1:p.Arg423= | |
| ENST00000644184.1:c.7A>C | ENSP00000495428.1:p.Arg3= | |
| ENST00000644255.1:c.*1037A>C | ENSP00000493608.1:n.*1037A>C | |
| ENST00000644319.1:n.1645A>C | ||
| ENST00000645901.1:n.2121A>C | ||
| ENST00000646391.1:c.*1040A>C | ENSP00000494104.1:n.*1040A>C | |
| ENST00000646625.1:c.1270A>C | ENSP00000496263.1:p.Arg424= | |
| ENST00000647279.1:c.*509A>C | ENSP00000494502.1:n.*509A>C | |
| ENST00000647506.1:n.2146A>C | ||
| ENST00000647534.1:n.334A>C | ||
| ENST00000298552.7:c.1270A>C | ENSP00000298552.3:p.Arg424= | |
| ENST00000440111.6:c.1270A>C | ENSP00000394524.2:p.Arg424= | |
| ENST00000545250.5:c.1117A>C | ENSP00000444017.1:p.Arg373= | |
| NM_000368.4:c.1270A>C , LRG_486t1:c.1270A>C | NP_000359.1:p.Arg424= | |
| NM_001162426.1:c.1267A>C | NP_001155898.1:p.Arg423= | |
| NM_001162427.1:c.1117A>C | NP_001155899.1:p.Arg373= | |
| XM_005272211.1:c.1270A>C | XP_005272268.1:p.Arg424= | |
| XM_006717271.1:c.1270A>C | XP_006717334.1:p.Arg424= | |
| XM_006717272.2:c.1270A>C | XP_006717335.1:p.Arg424= | |
| XM_011518979.1:c.1270A>C | XP_011517281.1:p.Arg424= | |
| NM_001362177.1:c.907A>C | NP_001349106.1:p.Arg303= | |
| XM_011518979.2:c.1270A>C | XP_011517281.1:p.Arg424= | |
| XM_017015096.1:c.1270A>C | XP_016870585.1:p.Arg424= | |
| XM_017015097.1:c.1270A>C | XP_016870586.1:p.Arg424= | |
| XM_017015098.1:c.1267A>C | XP_016870587.1:p.Arg423= | |
| XM_017015100.1:c.907A>C | XP_016870589.1:p.Arg303= | |
| XM_017015101.1:c.904A>C | XP_016870590.1:p.Arg302= | |
| NM_000368.5:c.1270A>C MANE Select | NP_000359.1:p.Arg424= | |
| NM_001162426.2:c.1267A>C | NP_001155898.1:p.Arg423= | |
| NM_001162427.2:c.1117A>C | NP_001155899.1:p.Arg373= | |
| NM_001362177.2:c.907A>C | NP_001349106.1:p.Arg303= |