Linked Data
ClinVar Variation Id:
364747
dbSNP Id:
rs753148214
ExAC:
9:123165150 G / A
gnomAD v2:
9-123165150-G-A
gnomAD v3:
9-120402872-G-A
gnomAD v4:
9-120402872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120402872G>A , CM000671.2:g.120402872G>A | GRCh38 |
| NC_000009.11:g.123165150G>A , CM000671.1:g.123165150G>A | GRCh37 |
| NC_000009.10:g.122204971G>A | NCBI36 |
| NG_008999.1:g.182288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4551C>T | ENSP00000354065.4:p.Leu1517= | |
| ENST00000416449.6:c.5145C>T | ENSP00000400395.2:p.Leu1715= | |
| ENST00000479584.2:n.3488C>T | ||
| ENST00000684780.1:n.5531C>T | ||
| ENST00000685866.1:c.*3066C>T | ENSP00000509484.1:n.*3066C>T | |
| ENST00000686376.1:c.5084C>T | ENSP00000510021.1:n.5084C>T | |
| ENST00000686842.1:n.8795C>T | ||
| ENST00000687279.1:c.5238C>T | ENSP00000508692.1:p.Leu1746= | |
| ENST00000687311.1:n.5204C>T | ||
| ENST00000687633.1:c.5142C>T | ENSP00000510289.1:p.Leu1714= | |
| ENST00000688512.1:c.849C>T | ENSP00000508546.1:p.Leu283= | |
| ENST00000688923.1:n.4376C>T | ||
| ENST00000689012.1:n.1629C>T | ||
| ENST00000689688.1:c.*304C>T | ENSP00000510155.1:n.*304C>T | |
| ENST00000690646.1:c.5067C>T | ENSP00000510383.1:p.Leu1689= | |
| ENST00000690814.1:c.*2417C>T | ENSP00000508792.1:n.*2417C>T | |
| ENST00000691504.1:n.6097C>T | ||
| ENST00000691551.1:c.1410C>T | ||
| ENST00000692155.1:c.5084C>T | ENSP00000510290.1:n.5084C>T | |
| ENST00000692746.1:n.4911C>T | ||
| ENST00000693386.1:c.5086C>T | ENSP00000510003.1:n.5086C>T | |
| ENST00000693433.1:n.8997C>T | ||
| ENST00000693714.1:n.5188C>T | ||
| ENST00000693728.1:c.5145C>T | ENSP00000510580.1:p.Leu1715= | |
| ENST00000349780.9:c.5241C>T MANE Select | ENSP00000343818.4:p.Leu1747= | |
| ENST00000349780.8:c.5241C>T | ENSP00000343818.4:p.Leu1747= | |
| ENST00000360190.8:c.5004C>T | ENSP00000353317.4:p.Leu1668= | |
| ENST00000360822.7:c.4551C>T | ENSP00000354065.4:p.Leu1517= | |
| ENST00000416449.5:c.3423C>T | ENSP00000400395.1:p.Leu1141= | |
| ENST00000425647.1:c.2271C>T | ENSP00000409941.1:p.Leu757= | |
| ENST00000433194.6:n.337C>T | ||
| ENST00000473282.6:c.*4065C>T | ENSP00000419265.1:n.*4065C>T | |
| ENST00000480112.5:c.*3068C>T | ENSP00000418418.1:n.*3068C>T | |
| ENST00000480467.5:n.453C>T | ||
| ENST00000484546.1:n.791C>T | ||
| NM_001011649.2:c.5004C>T | NP_001011649.1:p.Leu1668= | |
| NM_001272039.1:c.4551C>T | NP_001258968.1:p.Leu1517= | |
| NM_018249.5:c.5241C>T | NP_060719.4:p.Leu1747= | |
| NR_073554.1:n.5508C>T | ||
| NR_073555.1:n.5431C>T | ||
| NR_073556.1:n.5640C>T | ||
| NR_073557.1:n.5513C>T | ||
| NR_073558.1:n.5510C>T | ||
| XM_006717182.1:c.5145C>T | XP_006717245.1:p.Leu1715= | |
| XM_006717185.1:c.4554C>T | XP_006717248.1:p.Leu1518= | |
| XM_011518860.1:c.5238C>T | XP_011517162.1:p.Leu1746= | |
| XM_011518861.1:c.5238C>T | XP_011517163.1:p.Leu1746= | |
| XM_017014921.1:c.5142C>T | XP_016870410.1:p.Leu1714= | |
| XM_017014922.1:c.4407C>T | XP_016870411.1:p.Leu1469= | |
| XM_017014923.1:c.4317C>T | XP_016870412.1:p.Leu1439= | |
| XM_017014924.1:c.2799C>T | XP_016870413.1:p.Leu933= | |
| NM_018249.6:c.5241C>T MANE Select | NP_060719.4:p.Leu1747= | |
| NM_001011649.3:c.5004C>T | NP_001011649.1:p.Leu1668= | |
| NR_073554.2:n.5505C>T | ||
| NR_073555.2:n.5428C>T | ||
| NR_073556.2:n.5637C>T | ||
| NR_073557.2:n.5510C>T | ||
| NR_073558.2:n.5507C>T | ||
| NM_001272039.2:c.4551C>T | NP_001258968.1:p.Leu1517= |