Linked Data
ClinVar Variation Id:
1589543
ClinVar RCV Id:
RCV002101084
dbSNP Id:
rs2131760066
MyVariant Identifiers:
chr9:g.135779077C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132903690C>T , CM000671.2:g.132903690C>T | GRCh38 |
| NC_000009.11:g.135779077C>T , CM000671.1:g.135779077C>T | GRCh37 |
| NC_000009.10:g.134768898C>T | NCBI36 |
| NG_012386.1:g.45944G>A , LRG_486:g.45944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2166G>A | ENSP00000496126.2:p.Val722= | |
| ENST00000490179.4:c.2169G>A | ENSP00000495533.2:p.Val723= | |
| ENST00000642261.2:c.2169G>A | ENSP00000494743.2:p.Val723= | |
| ENST00000643275.2:c.*109G>A | ENSP00000495598.2:n.*109G>A | |
| ENST00000643362.2:c.1782G>A | ENSP00000496398.2:p.Val594= | |
| ENST00000643625.2:c.2041+721G>A | ENSP00000495546.2:n.2041+721G>A | |
| ENST00000643691.2:c.1806G>A | ENSP00000494916.2:p.Val602= | |
| ENST00000644184.2:c.2169G>A | ENSP00000495428.2:p.Val723= | |
| ENST00000645129.2:c.2013G>A | ENSP00000493639.2:p.Val671= | |
| ENST00000646440.2:c.2169G>A | ENSP00000495830.2:p.Val723= | |
| ENST00000298552.9:c.2169G>A MANE Select | ENSP00000298552.3:p.Val723= | |
| ENST00000642261.1:c.233G>A | ||
| ENST00000642617.1:c.2166G>A | ENSP00000493773.1:p.Val722= | |
| ENST00000642627.1:c.2151G>A | ENSP00000496772.1:p.Val717= | |
| ENST00000642811.1:c.*1939G>A | ENSP00000495554.1:n.*1939G>A | |
| ENST00000643072.1:c.2016G>A | ENSP00000496691.1:p.Val672= | |
| ENST00000643275.1:c.643G>A | ENSP00000495598.1:n.643G>A | |
| ENST00000643583.1:c.2154G>A | ENSP00000494685.1:p.Val718= | |
| ENST00000643625.1:c.85+721G>A | ENSP00000495546.1:n.85+721G>A | |
| ENST00000643875.1:c.2169G>A | ENSP00000495158.1:p.Val723= | |
| ENST00000644097.1:c.2166G>A | ENSP00000494682.1:p.Val722= | |
| ENST00000644184.1:c.906G>A | ENSP00000495428.1:p.Val302= | |
| ENST00000644255.1:c.*1936G>A | ENSP00000493608.1:n.*1936G>A | |
| ENST00000644319.1:n.2544G>A | ||
| ENST00000644882.1:n.1124G>A | ||
| ENST00000645901.1:n.3020G>A | ||
| ENST00000646391.1:c.*1939G>A | ENSP00000494104.1:n.*1939G>A | |
| ENST00000646625.1:c.2169G>A | ENSP00000496263.1:p.Val723= | |
| ENST00000647262.1:n.1134G>A | ||
| ENST00000647279.1:c.*1408G>A | ENSP00000494502.1:n.*1408G>A | |
| ENST00000647506.1:n.3045G>A | ||
| ENST00000647534.1:n.1233G>A | ||
| ENST00000298552.7:c.2169G>A | ENSP00000298552.3:p.Val723= | |
| ENST00000440111.6:c.2169G>A | ENSP00000394524.2:p.Val723= | |
| ENST00000545250.5:c.2016G>A | ENSP00000444017.1:p.Val672= | |
| NM_000368.4:c.2169G>A , LRG_486t1:c.2169G>A | NP_000359.1:p.Val723= | |
| NM_001162426.1:c.2166G>A | NP_001155898.1:p.Val722= | |
| NM_001162427.1:c.2016G>A | NP_001155899.1:p.Val672= | |
| XM_005272211.1:c.2169G>A | XP_005272268.1:p.Val723= | |
| XM_006717271.1:c.2169G>A | XP_006717334.1:p.Val723= | |
| XM_011518979.1:c.2169G>A | XP_011517281.1:p.Val723= | |
| NM_001362177.1:c.1806G>A | NP_001349106.1:p.Val602= | |
| XM_011518979.2:c.2169G>A | XP_011517281.1:p.Val723= | |
| XM_017015096.1:c.2169G>A | XP_016870585.1:p.Val723= | |
| XM_017015097.1:c.2169G>A | XP_016870586.1:p.Val723= | |
| XM_017015098.1:c.2166G>A | XP_016870587.1:p.Val722= | |
| XM_017015100.1:c.1806G>A | XP_016870589.1:p.Val602= | |
| XM_017015101.1:c.1803G>A | XP_016870590.1:p.Val601= | |
| NM_000368.5:c.2169G>A MANE Select | NP_000359.1:p.Val723= | |
| NM_001162426.2:c.2166G>A | NP_001155898.1:p.Val722= | |
| NM_001162427.2:c.2016G>A | NP_001155899.1:p.Val672= | |
| NM_001362177.2:c.1806G>A | NP_001349106.1:p.Val602= |