Linked Data
ClinVar Variation Id:
416646
dbSNP Id:
rs767514820
ExAC:
9:135786021 G / C
gnomAD v2:
9-135786021-G-C
gnomAD v3:
9-132910634-G-C
gnomAD v4:
9-132910634-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132910634G>C , CM000671.2:g.132910634G>C | GRCh38 |
| NC_000009.11:g.135786021G>C , CM000671.1:g.135786021G>C | GRCh37 |
| NC_000009.10:g.134775842G>C | NCBI36 |
| NG_012386.1:g.39000C>G , LRG_486:g.39000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.1197C>G | ENSP00000496126.2:p.Leu399= | |
| ENST00000490179.4:c.1200C>G | ENSP00000495533.2:p.Leu400= | |
| ENST00000642261.2:c.1200C>G | ENSP00000494743.2:p.Leu400= | |
| ENST00000643275.2:c.1200C>G | ENSP00000495598.2:p.Leu400= | |
| ENST00000643362.2:c.876+819C>G | ENSP00000496398.2:n.876+819C>G | |
| ENST00000643625.2:c.1200C>G | ENSP00000495546.2:p.Leu400= | |
| ENST00000643691.2:c.837C>G | ENSP00000494916.2:p.Leu279= | |
| ENST00000644184.2:c.1200C>G | ENSP00000495428.2:p.Leu400= | |
| ENST00000645129.2:c.1044C>G | ENSP00000493639.2:p.Leu348= | |
| ENST00000646440.2:c.1200C>G | ENSP00000495830.2:p.Leu400= | |
| ENST00000647078.2:c.*94C>G | ENSP00000496066.1:n.*94C>G | |
| ENST00000298552.9:c.1200C>G MANE Select | ENSP00000298552.3:p.Leu400= | |
| ENST00000493467.6:n.471C>G | ||
| ENST00000642344.1:c.*941C>G | ENSP00000494847.1:n.*941C>G | |
| ENST00000642617.1:c.1197C>G | ENSP00000493773.1:p.Leu399= | |
| ENST00000642627.1:c.1197C>G | ENSP00000496772.1:p.Leu399= | |
| ENST00000642646.1:c.1200C>G | ENSP00000496292.1:p.Leu400= | |
| ENST00000642745.1:c.1200C>G | ENSP00000493963.1:p.Leu400= | |
| ENST00000642811.1:c.*970C>G | ENSP00000495554.1:n.*970C>G | |
| ENST00000643072.1:c.1047C>G | ENSP00000496691.1:p.Leu349= | |
| ENST00000643362.1:c.876+819C>G | ENSP00000496398.1:n.876+819C>G | |
| ENST00000643583.1:c.1200C>G | ENSP00000494685.1:p.Leu400= | |
| ENST00000643875.1:c.1200C>G | ENSP00000495158.1:p.Leu400= | |
| ENST00000644097.1:c.1197C>G | ENSP00000494682.1:p.Leu399= | |
| ENST00000644255.1:c.*967C>G | ENSP00000493608.1:n.*967C>G | |
| ENST00000644319.1:n.1575C>G | ||
| ENST00000644997.1:c.*854C>G | ENSP00000495654.1:n.*854C>G | |
| ENST00000645150.1:c.1200C>G | ENSP00000494365.1:p.Leu400= | |
| ENST00000645901.1:n.2051C>G | ||
| ENST00000646391.1:c.*970C>G | ENSP00000494104.1:n.*970C>G | |
| ENST00000646625.1:c.1200C>G | ENSP00000496263.1:p.Leu400= | |
| ENST00000647078.1:c.*94C>G | ENSP00000496066.1:n.*94C>G | |
| ENST00000647279.1:c.*439C>G | ENSP00000494502.1:n.*439C>G | |
| ENST00000647462.1:c.1197C>G | ENSP00000495821.1:p.Leu399= | |
| ENST00000647506.1:n.2076C>G | ||
| ENST00000647534.1:n.264C>G | ||
| ENST00000298552.7:c.1200C>G | ENSP00000298552.3:p.Leu400= | |
| ENST00000440111.6:c.1200C>G | ENSP00000394524.2:p.Leu400= | |
| ENST00000493467.5:n.1396C>G | ||
| ENST00000545250.5:c.1047C>G | ENSP00000444017.1:p.Leu349= | |
| NM_000368.4:c.1200C>G , LRG_486t1:c.1200C>G | NP_000359.1:p.Leu400= | |
| NM_001162426.1:c.1197C>G | NP_001155898.1:p.Leu399= | |
| NM_001162427.1:c.1047C>G | NP_001155899.1:p.Leu349= | |
| XM_005272211.1:c.1200C>G | XP_005272268.1:p.Leu400= | |
| XM_006717271.1:c.1200C>G | XP_006717334.1:p.Leu400= | |
| XM_006717272.2:c.1200C>G | XP_006717335.1:p.Leu400= | |
| XM_011518979.1:c.1200C>G | XP_011517281.1:p.Leu400= | |
| NM_001362177.1:c.837C>G | NP_001349106.1:p.Leu279= | |
| XM_011518979.2:c.1200C>G | XP_011517281.1:p.Leu400= | |
| XM_017015096.1:c.1200C>G | XP_016870585.1:p.Leu400= | |
| XM_017015097.1:c.1200C>G | XP_016870586.1:p.Leu400= | |
| XM_017015098.1:c.1197C>G | XP_016870587.1:p.Leu399= | |
| XM_017015100.1:c.837C>G | XP_016870589.1:p.Leu279= | |
| XM_017015101.1:c.834C>G | XP_016870590.1:p.Leu278= | |
| NM_000368.5:c.1200C>G MANE Select | NP_000359.1:p.Leu400= | |
| NM_001162426.2:c.1197C>G | NP_001155898.1:p.Leu399= | |
| NM_001162427.2:c.1047C>G | NP_001155899.1:p.Leu349= | |
| NM_001362177.2:c.837C>G | NP_001349106.1:p.Leu279= |