Linked Data
ClinVar Variation Id:
64841
dbSNP Id:
rs397514878
gnomAD v2:
9-135778157-T-C
gnomAD v3:
9-132902770-T-C
gnomAD v4:
9-132902770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132902770T>C , CM000671.2:g.132902770T>C | GRCh38 |
| NC_000009.11:g.135778157T>C , CM000671.1:g.135778157T>C | GRCh37 |
| NC_000009.10:g.134767978T>C | NCBI36 |
| NG_012386.1:g.46864A>G , LRG_486:g.46864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2223A>G | ENSP00000496126.2:p.Leu741= | |
| ENST00000490179.4:c.2226A>G | ENSP00000495533.2:p.Leu742= | |
| ENST00000642261.2:c.*5A>G | ENSP00000494743.2:n.*5A>G | |
| ENST00000643275.2:c.*166A>G | ENSP00000495598.2:n.*166A>G | |
| ENST00000643362.2:c.1839A>G | ENSP00000496398.2:p.Leu613= | |
| ENST00000643625.2:c.2059A>G | ENSP00000495546.2:p.Thr687Ala | |
| ENST00000643691.2:c.1863A>G | ENSP00000494916.2:p.Leu621= | |
| ENST00000644184.2:c.2226A>G | ENSP00000495428.2:p.Leu742= | |
| ENST00000645129.2:c.2070A>G | ENSP00000493639.2:p.Leu690= | |
| ENST00000646440.2:c.2226A>G | ENSP00000495830.2:p.Leu742= | |
| ENST00000298552.9:c.2226A>G MANE Select | ENSP00000298552.3:p.Leu742= | |
| ENST00000642261.1:c.286A>G | ||
| ENST00000642617.1:c.2223A>G | ENSP00000493773.1:p.Leu741= | |
| ENST00000642627.1:c.2208A>G | ENSP00000496772.1:p.Leu736= | |
| ENST00000642811.1:c.*1996A>G | ENSP00000495554.1:n.*1996A>G | |
| ENST00000643072.1:c.2073A>G | ENSP00000496691.1:p.Leu691= | |
| ENST00000643275.1:c.700A>G | ENSP00000495598.1:n.700A>G | |
| ENST00000643583.1:c.2211A>G | ENSP00000494685.1:p.Leu737= | |
| ENST00000643625.1:c.103A>G | ENSP00000495546.1:p.Thr35Ala | |
| ENST00000643875.1:c.2226A>G | ENSP00000495158.1:p.Leu742= | |
| ENST00000644097.1:c.2223A>G | ENSP00000494682.1:p.Leu741= | |
| ENST00000644184.1:c.963A>G | ENSP00000495428.1:p.Leu321= | |
| ENST00000644255.1:c.*1993A>G | ENSP00000493608.1:n.*1993A>G | |
| ENST00000644319.1:n.2601A>G | ||
| ENST00000644882.1:n.1181A>G | ||
| ENST00000645901.1:n.3077A>G | ||
| ENST00000646391.1:c.*1996A>G | ENSP00000494104.1:n.*1996A>G | |
| ENST00000646625.1:c.2226A>G | ENSP00000496263.1:p.Leu742= | |
| ENST00000647262.1:n.1191A>G | ||
| ENST00000647279.1:c.*1465A>G | ENSP00000494502.1:n.*1465A>G | |
| ENST00000647506.1:n.3102A>G | ||
| ENST00000647534.1:n.1290A>G | ||
| ENST00000298552.7:c.2226A>G | ENSP00000298552.3:p.Leu742= | |
| ENST00000440111.6:c.2226A>G | ENSP00000394524.2:p.Leu742= | |
| ENST00000545250.5:c.2073A>G | ENSP00000444017.1:p.Leu691= | |
| NM_000368.4:c.2226A>G , LRG_486t1:c.2226A>G | NP_000359.1:p.Leu742= | |
| NM_001162426.1:c.2223A>G | NP_001155898.1:p.Leu741= | |
| NM_001162427.1:c.2073A>G | NP_001155899.1:p.Leu691= | |
| XM_005272211.1:c.2226A>G | XP_005272268.1:p.Leu742= | |
| XM_006717271.1:c.2226A>G | XP_006717334.1:p.Leu742= | |
| XM_011518979.1:c.2226A>G | XP_011517281.1:p.Leu742= | |
| NM_001362177.1:c.1863A>G | NP_001349106.1:p.Leu621= | |
| XM_011518979.2:c.2226A>G | XP_011517281.1:p.Leu742= | |
| XM_017015096.1:c.2226A>G | XP_016870585.1:p.Leu742= | |
| XM_017015097.1:c.2226A>G | XP_016870586.1:p.Leu742= | |
| XM_017015098.1:c.2223A>G | XP_016870587.1:p.Leu741= | |
| XM_017015100.1:c.1863A>G | XP_016870589.1:p.Leu621= | |
| XM_017015101.1:c.1860A>G | XP_016870590.1:p.Leu620= | |
| NM_000368.5:c.2226A>G MANE Select | NP_000359.1:p.Leu742= | |
| NM_001162426.2:c.2223A>G | NP_001155898.1:p.Leu741= | |
| NM_001162427.2:c.2073A>G | NP_001155899.1:p.Leu691= | |
| NM_001362177.2:c.1863A>G | NP_001349106.1:p.Leu621= |