Linked Data
ClinVar Variation Id:
93
ClinVar RCV Id:
RCV000000113
dbSNP Id:
rs137853595
PubMed:
PMID:11241842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18075559T>C , CM000670.2:g.18075559T>C | GRCh38 |
| NC_000008.10:g.17933068T>C , CM000670.1:g.17933068T>C | GRCh37 |
| NC_000008.9:g.17977348T>C | NCBI36 |
| NG_008985.1:g.14440A>G | |
| NG_008985.2:g.14440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.155A>G | ENSP00000371152.4:p.Tyr52Cys | |
| ENST00000518087.7:c.171A>G | ENSP00000490753.1:p.Leu57= | |
| ENST00000519545.6:n.124A>G | ||
| ENST00000520781.6:c.107A>G | ENSP00000427751.1:p.Tyr36Cys | |
| ENST00000523593.6:c.100A>G | ENSP00000490700.1:p.Ile34Val | |
| ENST00000635769.1:c.107A>G | ENSP00000490485.1:p.Tyr36Cys | |
| ENST00000635944.1:c.171A>G | ENSP00000490195.1:p.Leu57= | |
| ENST00000635998.1:c.107A>G | ENSP00000490506.1:p.Tyr36Cys | |
| ENST00000636009.1:c.39A>G | ENSP00000489988.1:p.Leu13= | |
| ENST00000636033.1:c.189A>G | ENSP00000489617.1:p.Leu63= | |
| ENST00000636050.1:c.244A>G | ENSP00000490562.1:p.Ile82Val | |
| ENST00000636128.1:c.107A>G | ENSP00000489789.1:p.Tyr36Cys | |
| ENST00000636160.1:c.107A>G | ENSP00000489651.1:p.Tyr36Cys | |
| ENST00000636171.1:c.107A>G | ENSP00000489761.1:p.Tyr36Cys | |
| ENST00000636269.1:c.-89A>G | ENSP00000490738.1:n.-89A>G | |
| ENST00000636299.1:c.155A>G | ENSP00000490202.1:p.Tyr52Cys | |
| ENST00000636435.1:n.191A>G | ||
| ENST00000636455.1:c.155A>G | ENSP00000490502.1:p.Tyr52Cys | |
| ENST00000636494.1:c.107A>G | ENSP00000490388.1:p.Tyr36Cys | |
| ENST00000636537.1:c.155A>G | ENSP00000489914.1:p.Tyr52Cys | |
| ENST00000636577.1:c.107A>G | ENSP00000490027.1:p.Tyr36Cys | |
| ENST00000636691.1:c.-89A>G | ENSP00000490725.1:n.-89A>G | |
| ENST00000636701.1:c.107A>G | ENSP00000489800.1:p.Tyr36Cys | |
| ENST00000636715.1:c.155A>G | ENSP00000490876.1:p.Tyr52Cys | |
| ENST00000636815.1:c.115A>G | ||
| ENST00000636823.1:c.-89A>G | ENSP00000490798.1:n.-89A>G | |
| ENST00000636828.1:n.283A>G | ||
| ENST00000636920.1:c.147A>G | ENSP00000490437.1:p.Leu49= | |
| ENST00000636997.1:c.107A>G | ENSP00000490093.1:p.Tyr36Cys | |
| ENST00000637013.1:c.*319A>G | ENSP00000490596.1:n.*319A>G | |
| ENST00000637095.1:c.107A>G | ENSP00000490415.1:p.Tyr36Cys | |
| ENST00000637202.1:c.107A>G | ENSP00000490129.1:p.Tyr36Cys | |
| ENST00000637244.1:c.*625A>G | ENSP00000490188.1:n.*625A>G | |
| ENST00000637429.1:c.*319A>G | ENSP00000490522.1:n.*319A>G | |
| ENST00000637484.1:c.*144A>G | ENSP00000490837.1:n.*144A>G | |
| ENST00000637528.1:c.107A>G | ENSP00000490801.1:p.Tyr36Cys | |
| ENST00000637536.1:c.461A>G | ENSP00000490464.1:p.Tyr154Cys | |
| ENST00000637561.1:c.107A>G | ENSP00000490536.1:p.Tyr36Cys | |
| ENST00000637603.1:c.107A>G | ENSP00000489979.1:p.Tyr36Cys | |
| ENST00000637609.1:n.140A>G | ||
| ENST00000637636.1:c.107A>G | ENSP00000490112.1:p.Tyr36Cys | |
| ENST00000637638.1:c.107A>G | ENSP00000490774.1:p.Tyr36Cys | |
| ENST00000637718.1:c.-89A>G | ENSP00000490133.1:n.-89A>G | |
| ENST00000637790.2:c.107A>G MANE Select | ENSP00000490272.1:p.Tyr36Cys | |
| ENST00000637792.1:c.155A>G | ENSP00000490423.1:p.Tyr52Cys | |
| ENST00000637805.1:c.159A>G | ENSP00000489884.1:p.Leu53= | |
| ENST00000637872.1:c.-89A>G | ENSP00000490432.1:n.-89A>G | |
| ENST00000637898.1:n.137A>G | ||
| ENST00000637922.1:c.-89A>G | ENSP00000490071.1:n.-89A>G | |
| ENST00000637946.1:c.*556A>G | ENSP00000490025.1:n.*556A>G | |
| ENST00000637991.1:c.155A>G | ENSP00000489901.1:p.Tyr52Cys | |
| ENST00000638069.1:n.163A>G | ||
| ENST00000262097.10:c.107A>G | ENSP00000262097.6:p.Tyr36Cys | |
| ENST00000314146.10:c.155A>G | ENSP00000326970.10:p.Tyr52Cys | |
| ENST00000381733.8:c.155A>G | ENSP00000371152.4:p.Tyr52Cys | |
| ENST00000518087.6:n.155A>G | ||
| ENST00000519468.5:n.113A>G | ||
| ENST00000519545.5:n.121A>G | ||
| ENST00000520051.1:n.693A>G | ||
| ENST00000520781.5:c.107A>G | ENSP00000427751.1:p.Tyr36Cys | |
| ENST00000523593.5:n.138A>G | ||
| NM_001127505.1:c.155A>G | NP_001120977.1:p.Tyr52Cys | |
| NM_001127505.2:c.155A>G | NP_001120977.1:p.Tyr52Cys | |
| NM_004315.4:c.155A>G | NP_004306.3:p.Tyr52Cys | |
| NM_004315.5:c.155A>G | NP_004306.3:p.Tyr52Cys | |
| NM_177924.3:c.107A>G | NP_808592.2:p.Tyr36Cys | |
| NM_177924.4:c.107A>G | NP_808592.2:p.Tyr36Cys | |
| XM_005273504.2:c.41A>G | XP_005273561.1:p.Tyr14Cys | |
| NM_001363743.1:c.-89A>G | NP_001350672.1:n.-89A>G | |
| XM_005273504.3:c.41A>G | XP_005273561.1:p.Tyr14Cys | |
| NM_177924.5:c.107A>G MANE Select | NP_808592.2:p.Tyr36Cys | |
| NM_001127505.3:c.155A>G | NP_001120977.1:p.Tyr52Cys | |
| NM_001363743.2:c.-89A>G | NP_001350672.1:n.-89A>G | |
| NM_004315.6:c.155A>G | NP_004306.3:p.Tyr52Cys |