Linked Data
ClinVar Variation Id:
1301368
dbSNP Id:
rs144012972
ExAC:
9:123182204 G / C
gnomAD v2:
9-123182204-G-C
gnomAD v3:
9-120419926-G-C
gnomAD v4:
9-120419926-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120419926G>C , CM000671.2:g.120419926G>C | GRCh38 |
| NC_000009.11:g.123182204G>C , CM000671.1:g.123182204G>C | GRCh37 |
| NC_000009.10:g.122222025G>C | NCBI36 |
| NG_008999.1:g.165234C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.3349C>G | ENSP00000354065.4:p.Leu1117Val | |
| ENST00000416449.6:c.3943C>G | ENSP00000400395.2:p.Leu1315Val | |
| ENST00000479584.2:n.2286C>G | ||
| ENST00000684780.1:n.4329C>G | ||
| ENST00000685866.1:c.*1866C>G | ENSP00000509484.1:n.*1866C>G | |
| ENST00000686376.1:c.4119C>G | ENSP00000510021.1:n.4119C>G | |
| ENST00000686842.1:n.7593C>G | ||
| ENST00000687279.1:c.4036C>G | ENSP00000508692.1:p.Leu1346Val | |
| ENST00000687311.1:n.4002C>G | ||
| ENST00000687633.1:c.3940C>G | ENSP00000510289.1:p.Leu1314Val | |
| ENST00000688923.1:n.3411C>G | ||
| ENST00000689688.1:c.4039C>G | ENSP00000510155.1:p.Leu1347Val | |
| ENST00000690646.1:c.3943C>G | ENSP00000510383.1:p.Leu1315Val | |
| ENST00000690814.1:c.*1215C>G | ENSP00000508792.1:n.*1215C>G | |
| ENST00000691504.1:n.3933C>G | ||
| ENST00000691551.1:c.208C>G | ||
| ENST00000692155.1:c.4119C>G | ENSP00000510290.1:n.4119C>G | |
| ENST00000692746.1:n.3946C>G | ||
| ENST00000693386.1:c.3909-25C>G | ENSP00000510003.1:n.3909-25C>G | |
| ENST00000693433.1:n.3933C>G | ||
| ENST00000693714.1:n.3986C>G | ||
| ENST00000693728.1:c.3943C>G | ENSP00000510580.1:p.Leu1315Val | |
| ENST00000349780.9:c.4039C>G MANE Select | ENSP00000343818.4:p.Leu1347Val | |
| ENST00000349780.8:c.4039C>G | ENSP00000343818.4:p.Leu1347Val | |
| ENST00000360190.8:c.4039C>G | ENSP00000353317.4:p.Leu1347Val | |
| ENST00000360822.7:c.3349C>G | ENSP00000354065.4:p.Leu1117Val | |
| ENST00000416449.5:c.2221C>G | ENSP00000400395.1:p.Leu741Val | |
| ENST00000425647.1:c.1069C>G | ENSP00000409941.1:p.Leu357Val | |
| ENST00000473282.6:c.*2863C>G | ENSP00000419265.1:n.*2863C>G | |
| ENST00000480112.5:c.*1866C>G | ENSP00000418418.1:n.*1866C>G | |
| ENST00000483412.5:n.3347C>G | ||
| NM_001011649.2:c.4039C>G | NP_001011649.1:p.Leu1347Val | |
| NM_001272039.1:c.3349C>G | NP_001258968.1:p.Leu1117Val | |
| NM_018249.5:c.4039C>G | NP_060719.4:p.Leu1347Val | |
| NR_073554.1:n.4308C>G | ||
| NR_073555.1:n.4231C>G | ||
| NR_073556.1:n.4438C>G | ||
| NR_073557.1:n.4311C>G | ||
| NR_073558.1:n.4308C>G | ||
| XM_006717182.1:c.3943C>G | XP_006717245.1:p.Leu1315Val | |
| XM_006717185.1:c.3352C>G | XP_006717248.1:p.Leu1118Val | |
| XM_011518860.1:c.4036C>G | XP_011517162.1:p.Leu1346Val | |
| XM_011518861.1:c.4036C>G | XP_011517163.1:p.Leu1346Val | |
| XM_017014921.1:c.3940C>G | XP_016870410.1:p.Leu1314Val | |
| XM_017014922.1:c.3205C>G | XP_016870411.1:p.Leu1069Val | |
| XM_017014923.1:c.3352C>G | XP_016870412.1:p.Leu1118Val | |
| XM_017014924.1:c.1834C>G | XP_016870413.1:p.Leu612Val | |
| NM_018249.6:c.4039C>G MANE Select | NP_060719.4:p.Leu1347Val | |
| NM_001011649.3:c.4039C>G | NP_001011649.1:p.Leu1347Val | |
| NR_073554.2:n.4305C>G | ||
| NR_073555.2:n.4228C>G | ||
| NR_073556.2:n.4435C>G | ||
| NR_073557.2:n.4308C>G | ||
| NR_073558.2:n.4305C>G | ||
| NM_001272039.2:c.3349C>G | NP_001258968.1:p.Leu1117Val |