Linked Data
ClinVar Variation Id:
41639
ClinVar RCV Id:
RCV000034545
RCV000075554
RCV000115472
RCV000121366
RCV000600229
RCV001082159
RCV001269371
RCV001762098
RCV001798063
dbSNP Id:
rs35831931
ExAC:
3:37092019 G / A
gnomAD v2:
3-37092019-G-A
gnomAD v3:
3-37050528-G-A
gnomAD v4:
3-37050528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050528G>A , CM000665.2:g.37050528G>A | GRCh38 |
| NC_000003.11:g.37092019G>A , CM000665.1:g.37092019G>A | GRCh37 |
| NC_000003.10:g.37067023G>A | NCBI36 |
| NG_007109.2:g.62179G>A , LRG_216:g.62179G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1710G>A | ENSP00000416476.2:p.Leu570= | |
| ENST00000429117.6:c.1852G>A | ENSP00000407019.2:p.Val618Met | |
| ENST00000450420.6:c.*38G>A | ENSP00000393006.2:n.*38G>A | |
| ENST00000456676.7:c.1939G>A | ENSP00000416687.3:p.Val647Met | |
| ENST00000492474.6:c.1423G>A | ENSP00000518393.1:p.Val475Met | |
| ENST00000616768.6:c.2053G>A | ENSP00000480669.3:p.Val685Met | |
| ENST00000673673.2:c.1981G>A | ENSP00000500979.2:p.Val661Met | |
| ENST00000231790.8:c.2146G>A MANE Select | ENSP00000231790.3:p.Val716Met | |
| ENST00000413212.2:c.*1064G>A | ENSP00000400844.2:n.*1064G>A | |
| ENST00000432299.6:c.*1978G>A | ENSP00000416783.1:n.*1978G>A | |
| ENST00000447829.6:c.*1257G>A | ENSP00000399329.2:n.*1257G>A | |
| ENST00000539477.6:c.1423G>A | ENSP00000443665.1:p.Val475Met | |
| ENST00000616768.5:c.1090G>A | ENSP00000480669.2:p.Val364Met | |
| ENST00000673673.1:c.1934G>A | ||
| ENST00000673741.1:n.1180G>A | ||
| ENST00000673889.1:n.1528G>A | ||
| ENST00000673897.1:c.*1938G>A | ENSP00000501109.1:n.*1938G>A | |
| ENST00000673899.1:c.1414G>A | ENSP00000501030.1:p.Val472Met | |
| ENST00000673947.1:c.*2286G>A | ENSP00000501304.1:n.*2286G>A | |
| ENST00000673972.1:c.*2024G>A | ENSP00000501281.1:n.*2024G>A | |
| ENST00000674019.1:c.1423G>A | ENSP00000501081.1:p.Val475Met | |
| ENST00000674111.1:c.*375G>A | ENSP00000501162.1:n.*375G>A | |
| ENST00000674125.1:n.857G>A | ||
| ENST00000231790.6:c.2146G>A | ENSP00000231790.2:p.Val716Met | |
| ENST00000413740.1:c.333G>A | ENSP00000416476.1:p.Leu111= | |
| ENST00000435176.5:c.1852G>A | ENSP00000402564.1:p.Val618Met | |
| ENST00000450420.5:c.224G>A | ENSP00000393006.1:n.224G>A | |
| ENST00000455445.6:c.1423G>A | ENSP00000398272.2:p.Val475Met | |
| ENST00000456676.6:c.1914G>A | ||
| ENST00000458205.6:c.1423G>A | ENSP00000402667.2:p.Val475Met | |
| ENST00000536378.5:c.1423G>A | ENSP00000444286.2:p.Val475Met | |
| ENST00000539477.5:c.1423G>A | ENSP00000443665.1:p.Val475Met | |
| NM_000249.3:c.2146G>A , LRG_216t1:c.2146G>A | NP_000240.1:p.Val716Met | |
| NM_001167617.1:c.1852G>A | NP_001161089.1:p.Val618Met | |
| NM_001167618.1:c.1423G>A | NP_001161090.1:p.Val475Met | |
| NM_001167619.1:c.1423G>A | NP_001161091.1:p.Val475Met | |
| NM_001258271.1:c.1939G>A | NP_001245200.1:p.Val647Met | |
| NM_001258273.1:c.1423G>A | NP_001245202.1:p.Val475Met | |
| NM_001258274.1:c.1423G>A | NP_001245203.1:p.Val475Met | |
| XM_005265161.1:c.1939G>A | XP_005265218.1:p.Val647Met | |
| XM_005265163.1:c.1423G>A | XP_005265220.1:p.Val475Met | |
| XM_005265164.1:c.1423G>A | XP_005265221.1:p.Val475Met | |
| XM_005265166.1:c.1123G>A | XP_005265223.1:p.Val375Met | |
| XM_011533727.1:c.1072G>A | XP_011532029.1:p.Val358Met | |
| NM_001167617.2:c.1852G>A | NP_001161089.1:p.Val618Met | |
| NM_001167618.2:c.1423G>A | NP_001161090.1:p.Val475Met | |
| NM_001167619.2:c.1423G>A | NP_001161091.1:p.Val475Met | |
| NM_001258274.2:c.1423G>A | NP_001245203.1:p.Val475Met | |
| NM_001354615.1:c.1423G>A | NP_001341544.1:p.Val475Met | |
| NM_001354616.1:c.1423G>A | NP_001341545.1:p.Val475Met | |
| NM_001354617.1:c.1423G>A | NP_001341546.1:p.Val475Met | |
| NM_001354618.1:c.1423G>A | NP_001341547.1:p.Val475Met | |
| NM_001354619.1:c.1423G>A | NP_001341548.1:p.Val475Met | |
| NM_001354620.1:c.1852G>A | NP_001341549.1:p.Val618Met | |
| NM_001354621.1:c.1123G>A | NP_001341550.1:p.Val375Met | |
| NM_001354622.1:c.1123G>A | NP_001341551.1:p.Val375Met | |
| NM_001354623.1:c.1123G>A | NP_001341552.1:p.Val375Met | |
| NM_001354624.1:c.1072G>A | NP_001341553.1:p.Val358Met | |
| NM_001354625.1:c.1072G>A | NP_001341554.1:p.Val358Met | |
| NM_001354626.1:c.1072G>A | NP_001341555.1:p.Val358Met | |
| NM_001354627.1:c.1072G>A | NP_001341556.1:p.Val358Met | |
| NM_001354628.1:c.2053G>A | NP_001341557.1:p.Val685Met | |
| NM_001354629.1:c.2047G>A | NP_001341558.1:p.Val683Met | |
| NM_001354630.1:c.1981G>A | NP_001341559.1:p.Val661Met | |
| XM_005265161.2:c.1939G>A | XP_005265218.1:p.Val647Met | |
| XM_017006450.2:c.1123G>A | XP_016861939.1:p.Val375Met | |
| NM_000249.4:c.2146G>A MANE Select | NP_000240.1:p.Val716Met | |
| NM_001167617.3:c.1852G>A | NP_001161089.1:p.Val618Met | |
| NM_001167618.3:c.1423G>A | NP_001161090.1:p.Val475Met | |
| NM_001167619.3:c.1423G>A | NP_001161091.1:p.Val475Met | |
| NM_001258271.2:c.1939G>A | NP_001245200.1:p.Val647Met | |
| NM_001258273.2:c.1423G>A | NP_001245202.1:p.Val475Met | |
| NM_001258274.3:c.1423G>A | NP_001245203.1:p.Val475Met | |
| NM_001354615.2:c.1423G>A | NP_001341544.1:p.Val475Met | |
| NM_001354616.2:c.1423G>A | NP_001341545.1:p.Val475Met | |
| NM_001354617.2:c.1423G>A | NP_001341546.1:p.Val475Met | |
| NM_001354618.2:c.1423G>A | NP_001341547.1:p.Val475Met | |
| NM_001354619.2:c.1423G>A | NP_001341548.1:p.Val475Met | |
| NM_001354620.2:c.1852G>A | NP_001341549.1:p.Val618Met | |
| NM_001354621.2:c.1123G>A | NP_001341550.1:p.Val375Met | |
| NM_001354622.2:c.1123G>A | NP_001341551.1:p.Val375Met | |
| NM_001354623.2:c.1123G>A | NP_001341552.1:p.Val375Met | |
| NM_001354624.2:c.1072G>A | NP_001341553.1:p.Val358Met | |
| NM_001354625.2:c.1072G>A | NP_001341554.1:p.Val358Met | |
| NM_001354626.2:c.1072G>A | NP_001341555.1:p.Val358Met | |
| NM_001354627.2:c.1072G>A | NP_001341556.1:p.Val358Met | |
| NM_001354628.2:c.2053G>A | NP_001341557.1:p.Val685Met | |
| NM_001354629.2:c.2047G>A | NP_001341558.1:p.Val683Met | |
| NM_001354630.2:c.1981G>A | NP_001341559.1:p.Val661Met |