Linked Data
ClinVar Variation Id:
378144
dbSNP Id:
rs1800145
gnomAD v2:
3-37090019-G-A
gnomAD v3:
3-37048528-G-A
gnomAD v4:
3-37048528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048528G>A , CM000665.2:g.37048528G>A | GRCh38 |
| NC_000003.11:g.37090019G>A , CM000665.1:g.37090019G>A | GRCh37 |
| NC_000003.10:g.37065023G>A | NCBI36 |
| NG_007109.2:g.60179G>A , LRG_216:g.60179G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1668-1958G>A | ENSP00000416476.2:n.1668-1958G>A | |
| ENST00000429117.6:c.1614G>A | ENSP00000407019.2:p.Leu538= | |
| ENST00000450420.6:c.1559-1958G>A | ENSP00000393006.2:n.1559-1958G>A | |
| ENST00000456676.7:c.1896+845G>A | ENSP00000416687.3:n.1896+845G>A | |
| ENST00000492474.6:c.1185G>A | ENSP00000518393.1:p.Leu395= | |
| ENST00000616768.6:c.1897-376G>A | ENSP00000480669.3:n.1897-376G>A | |
| ENST00000673673.2:c.1743G>A | ENSP00000500979.2:p.Leu581= | |
| ENST00000231790.8:c.1908G>A MANE Select | ENSP00000231790.3:p.Leu636= | |
| ENST00000413212.2:c.*826G>A | ENSP00000400844.2:n.*826G>A | |
| ENST00000432299.6:c.*1740G>A | ENSP00000416783.1:n.*1740G>A | |
| ENST00000447829.6:c.*1019G>A | ENSP00000399329.2:n.*1019G>A | |
| ENST00000539477.6:c.1185G>A | ENSP00000443665.1:p.Leu395= | |
| ENST00000616768.5:c.934-376G>A | ENSP00000480669.2:n.934-376G>A | |
| ENST00000673673.1:c.1696G>A | ||
| ENST00000673741.1:n.942G>A | ||
| ENST00000673889.1:n.1290G>A | ||
| ENST00000673897.1:c.*1700G>A | ENSP00000501109.1:n.*1700G>A | |
| ENST00000673899.1:c.1176G>A | ENSP00000501030.1:p.Leu392= | |
| ENST00000673947.1:c.*2048G>A | ENSP00000501304.1:n.*2048G>A | |
| ENST00000673972.1:c.*1786G>A | ENSP00000501281.1:n.*1786G>A | |
| ENST00000674019.1:c.1185G>A | ENSP00000501081.1:p.Leu395= | |
| ENST00000674111.1:c.*137G>A | ENSP00000501162.1:n.*137G>A | |
| ENST00000674125.1:n.619G>A | ||
| ENST00000231790.6:c.1908G>A | ENSP00000231790.2:p.Leu636= | |
| ENST00000413740.1:c.291-1958G>A | ENSP00000416476.1:n.291-1958G>A | |
| ENST00000435176.5:c.1614G>A | ENSP00000402564.1:p.Leu538= | |
| ENST00000450420.5:c.182-1958G>A | ENSP00000393006.1:n.182-1958G>A | |
| ENST00000455445.6:c.1185G>A | ENSP00000398272.2:p.Leu395= | |
| ENST00000456676.6:c.1871+845G>A | ||
| ENST00000458205.6:c.1185G>A | ENSP00000402667.2:p.Leu395= | |
| ENST00000536378.5:c.1185G>A | ENSP00000444286.2:p.Leu395= | |
| ENST00000539477.5:c.1185G>A | ENSP00000443665.1:p.Leu395= | |
| NM_000249.3:c.1908G>A , LRG_216t1:c.1908G>A | NP_000240.1:p.Leu636= | |
| NM_001167617.1:c.1614G>A | NP_001161089.1:p.Leu538= | |
| NM_001167618.1:c.1185G>A | NP_001161090.1:p.Leu395= | |
| NM_001167619.1:c.1185G>A | NP_001161091.1:p.Leu395= | |
| NM_001258271.1:c.1896+845G>A | NP_001245200.1:n.1896+845G>A | |
| NM_001258273.1:c.1185G>A | NP_001245202.1:p.Leu395= | |
| NM_001258274.1:c.1185G>A | NP_001245203.1:p.Leu395= | |
| XM_005265161.1:c.1701G>A | XP_005265218.1:p.Leu567= | |
| XM_005265163.1:c.1185G>A | XP_005265220.1:p.Leu395= | |
| XM_005265164.1:c.1185G>A | XP_005265221.1:p.Leu395= | |
| XM_005265166.1:c.885G>A | XP_005265223.1:p.Leu295= | |
| XM_011533727.1:c.834G>A | XP_011532029.1:p.Leu278= | |
| NM_001167617.2:c.1614G>A | NP_001161089.1:p.Leu538= | |
| NM_001167618.2:c.1185G>A | NP_001161090.1:p.Leu395= | |
| NM_001167619.2:c.1185G>A | NP_001161091.1:p.Leu395= | |
| NM_001258274.2:c.1185G>A | NP_001245203.1:p.Leu395= | |
| NM_001354615.1:c.1185G>A | NP_001341544.1:p.Leu395= | |
| NM_001354616.1:c.1185G>A | NP_001341545.1:p.Leu395= | |
| NM_001354617.1:c.1185G>A | NP_001341546.1:p.Leu395= | |
| NM_001354618.1:c.1185G>A | NP_001341547.1:p.Leu395= | |
| NM_001354619.1:c.1185G>A | NP_001341548.1:p.Leu395= | |
| NM_001354620.1:c.1614G>A | NP_001341549.1:p.Leu538= | |
| NM_001354621.1:c.885G>A | NP_001341550.1:p.Leu295= | |
| NM_001354622.1:c.885G>A | NP_001341551.1:p.Leu295= | |
| NM_001354623.1:c.885G>A | NP_001341552.1:p.Leu295= | |
| NM_001354624.1:c.834G>A | NP_001341553.1:p.Leu278= | |
| NM_001354625.1:c.834G>A | NP_001341554.1:p.Leu278= | |
| NM_001354626.1:c.834G>A | NP_001341555.1:p.Leu278= | |
| NM_001354627.1:c.834G>A | NP_001341556.1:p.Leu278= | |
| NM_001354628.1:c.1897-376G>A | NP_001341557.1:n.1897-376G>A | |
| NM_001354629.1:c.1809G>A | NP_001341558.1:p.Leu603= | |
| NM_001354630.1:c.1743G>A | NP_001341559.1:p.Leu581= | |
| XM_005265161.2:c.1701G>A | XP_005265218.1:p.Leu567= | |
| XM_017006450.2:c.885G>A | XP_016861939.1:p.Leu295= | |
| NM_000249.4:c.1908G>A MANE Select | NP_000240.1:p.Leu636= | |
| NM_001167617.3:c.1614G>A | NP_001161089.1:p.Leu538= | |
| NM_001167618.3:c.1185G>A | NP_001161090.1:p.Leu395= | |
| NM_001167619.3:c.1185G>A | NP_001161091.1:p.Leu395= | |
| NM_001258271.2:c.1896+845G>A | NP_001245200.1:n.1896+845G>A | |
| NM_001258273.2:c.1185G>A | NP_001245202.1:p.Leu395= | |
| NM_001258274.3:c.1185G>A | NP_001245203.1:p.Leu395= | |
| NM_001354615.2:c.1185G>A | NP_001341544.1:p.Leu395= | |
| NM_001354616.2:c.1185G>A | NP_001341545.1:p.Leu395= | |
| NM_001354617.2:c.1185G>A | NP_001341546.1:p.Leu395= | |
| NM_001354618.2:c.1185G>A | NP_001341547.1:p.Leu395= | |
| NM_001354619.2:c.1185G>A | NP_001341548.1:p.Leu395= | |
| NM_001354620.2:c.1614G>A | NP_001341549.1:p.Leu538= | |
| NM_001354621.2:c.885G>A | NP_001341550.1:p.Leu295= | |
| NM_001354622.2:c.885G>A | NP_001341551.1:p.Leu295= | |
| NM_001354623.2:c.885G>A | NP_001341552.1:p.Leu295= | |
| NM_001354624.2:c.834G>A | NP_001341553.1:p.Leu278= | |
| NM_001354625.2:c.834G>A | NP_001341554.1:p.Leu278= | |
| NM_001354626.2:c.834G>A | NP_001341555.1:p.Leu278= | |
| NM_001354627.2:c.834G>A | NP_001341556.1:p.Leu278= | |
| NM_001354628.2:c.1897-376G>A | NP_001341557.1:n.1897-376G>A | |
| NM_001354629.2:c.1809G>A | NP_001341558.1:p.Leu603= | |
| NM_001354630.2:c.1743G>A | NP_001341559.1:p.Leu581= |