Linked Data
ClinVar Variation Id:
364745
dbSNP Id:
rs375896806
ExAC:
9:123163109 G / T
gnomAD v2:
9-123163109-G-T
gnomAD v3:
9-120400831-G-T
gnomAD v4:
9-120400831-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120400831G>T , CM000671.2:g.120400831G>T | GRCh38 |
| NC_000009.11:g.123163109G>T , CM000671.1:g.123163109G>T | GRCh37 |
| NC_000009.10:g.122202930G>T | NCBI36 |
| NG_008999.1:g.184329C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4672C>A | ENSP00000354065.4:p.Leu1558Met | |
| ENST00000416449.6:c.5266C>A | ENSP00000400395.2:p.Leu1756Met | |
| ENST00000479584.2:n.3609C>A | ||
| ENST00000684780.1:n.5652C>A | ||
| ENST00000685866.1:c.*3187C>A | ENSP00000509484.1:n.*3187C>A | |
| ENST00000686376.1:c.5205C>A | ENSP00000510021.1:n.5205C>A | |
| ENST00000686842.1:n.8916C>A | ||
| ENST00000687279.1:c.5359C>A | ENSP00000508692.1:p.Leu1787Met | |
| ENST00000687311.1:n.5325C>A | ||
| ENST00000687633.1:c.5263C>A | ENSP00000510289.1:p.Leu1755Met | |
| ENST00000688512.1:c.970C>A | ENSP00000508546.1:p.Leu324Met | |
| ENST00000688923.1:n.4497C>A | ||
| ENST00000689012.1:n.1750C>A | ||
| ENST00000689688.1:c.*425C>A | ENSP00000510155.1:n.*425C>A | |
| ENST00000690646.1:c.5188C>A | ENSP00000510383.1:p.Leu1730Met | |
| ENST00000690814.1:c.*2538C>A | ENSP00000508792.1:n.*2538C>A | |
| ENST00000691504.1:n.6218C>A | ||
| ENST00000691551.1:c.1531C>A | ||
| ENST00000692155.1:c.5205C>A | ENSP00000510290.1:n.5205C>A | |
| ENST00000692746.1:n.5032C>A | ||
| ENST00000693386.1:c.5207C>A | ENSP00000510003.1:n.5207C>A | |
| ENST00000693433.1:n.9118C>A | ||
| ENST00000693714.1:n.5309C>A | ||
| ENST00000693728.1:c.5266C>A | ENSP00000510580.1:p.Leu1756Met | |
| ENST00000349780.9:c.5362C>A MANE Select | ENSP00000343818.4:p.Leu1788Met | |
| ENST00000349780.8:c.5362C>A | ENSP00000343818.4:p.Leu1788Met | |
| ENST00000360190.8:c.5125C>A | ENSP00000353317.4:p.Leu1709Met | |
| ENST00000360822.7:c.4672C>A | ENSP00000354065.4:p.Leu1558Met | |
| ENST00000416449.5:c.3544C>A | ENSP00000400395.1:p.Leu1182Met | |
| ENST00000425647.1:c.2392C>A | ENSP00000409941.1:p.Leu798Met | |
| ENST00000433194.6:n.458C>A | ||
| ENST00000473282.6:c.*4186C>A | ENSP00000419265.1:n.*4186C>A | |
| ENST00000474262.5:n.189C>A | ||
| ENST00000480112.5:c.*3189C>A | ENSP00000418418.1:n.*3189C>A | |
| ENST00000480467.5:n.574C>A | ||
| ENST00000484546.1:n.912C>A | ||
| NM_001011649.2:c.5125C>A | NP_001011649.1:p.Leu1709Met | |
| NM_001272039.1:c.4672C>A | NP_001258968.1:p.Leu1558Met | |
| NM_018249.5:c.5362C>A | NP_060719.4:p.Leu1788Met | |
| NR_073554.1:n.5629C>A | ||
| NR_073555.1:n.5552C>A | ||
| NR_073556.1:n.5761C>A | ||
| NR_073557.1:n.5634C>A | ||
| NR_073558.1:n.5631C>A | ||
| XM_006717182.1:c.5266C>A | XP_006717245.1:p.Leu1756Met | |
| XM_006717185.1:c.4675C>A | XP_006717248.1:p.Leu1559Met | |
| XM_011518860.1:c.5359C>A | XP_011517162.1:p.Leu1787Met | |
| XM_011518861.1:c.5359C>A | XP_011517163.1:p.Leu1787Met | |
| XM_017014921.1:c.5263C>A | XP_016870410.1:p.Leu1755Met | |
| XM_017014922.1:c.4528C>A | XP_016870411.1:p.Leu1510Met | |
| XM_017014923.1:c.4438C>A | XP_016870412.1:p.Leu1480Met | |
| XM_017014924.1:c.2920C>A | XP_016870413.1:p.Leu974Met | |
| NM_018249.6:c.5362C>A MANE Select | NP_060719.4:p.Leu1788Met | |
| NM_001011649.3:c.5125C>A | NP_001011649.1:p.Leu1709Met | |
| NR_073554.2:n.5626C>A | ||
| NR_073555.2:n.5549C>A | ||
| NR_073556.2:n.5758C>A | ||
| NR_073557.2:n.5631C>A | ||
| NR_073558.2:n.5628C>A | ||
| NM_001272039.2:c.4672C>A | NP_001258968.1:p.Leu1558Met |