Linked Data
ClinVar Variation Id:
650453
ClinVar RCV Id:
RCV000805611
dbSNP Id:
rs1251881236
gnomAD v3:
3-37050529-T-C
gnomAD v4:
3-37050529-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050529T>C , CM000665.2:g.37050529T>C | GRCh38 |
| NC_000003.11:g.37092020T>C , CM000665.1:g.37092020T>C | GRCh37 |
| NC_000003.10:g.37067024T>C | NCBI36 |
| NG_007109.2:g.62180T>C , LRG_216:g.62180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1711T>C | ENSP00000416476.2:p.Trp571Arg | |
| ENST00000429117.6:c.1853T>C | ENSP00000407019.2:p.Val618Ala | |
| ENST00000450420.6:c.*39T>C | ENSP00000393006.2:n.*39T>C | |
| ENST00000456676.7:c.1940T>C | ENSP00000416687.3:p.Val647Ala | |
| ENST00000492474.6:c.1424T>C | ENSP00000518393.1:p.Val475Ala | |
| ENST00000616768.6:c.2054T>C | ENSP00000480669.3:p.Val685Ala | |
| ENST00000673673.2:c.1982T>C | ENSP00000500979.2:p.Val661Ala | |
| ENST00000231790.8:c.2147T>C MANE Select | ENSP00000231790.3:p.Val716Ala | |
| ENST00000413212.2:c.*1065T>C | ENSP00000400844.2:n.*1065T>C | |
| ENST00000432299.6:c.*1979T>C | ENSP00000416783.1:n.*1979T>C | |
| ENST00000447829.6:c.*1258T>C | ENSP00000399329.2:n.*1258T>C | |
| ENST00000539477.6:c.1424T>C | ENSP00000443665.1:p.Val475Ala | |
| ENST00000616768.5:c.1091T>C | ENSP00000480669.2:p.Val364Ala | |
| ENST00000673673.1:c.1935T>C | ||
| ENST00000673741.1:n.1181T>C | ||
| ENST00000673889.1:n.1529T>C | ||
| ENST00000673897.1:c.*1939T>C | ENSP00000501109.1:n.*1939T>C | |
| ENST00000673899.1:c.1415T>C | ENSP00000501030.1:p.Val472Ala | |
| ENST00000673947.1:c.*2287T>C | ENSP00000501304.1:n.*2287T>C | |
| ENST00000673972.1:c.*2025T>C | ENSP00000501281.1:n.*2025T>C | |
| ENST00000674019.1:c.1424T>C | ENSP00000501081.1:p.Val475Ala | |
| ENST00000674111.1:c.*376T>C | ENSP00000501162.1:n.*376T>C | |
| ENST00000674125.1:n.858T>C | ||
| ENST00000231790.6:c.2147T>C | ENSP00000231790.2:p.Val716Ala | |
| ENST00000413740.1:c.334T>C | ENSP00000416476.1:p.Trp112Arg | |
| ENST00000435176.5:c.1853T>C | ENSP00000402564.1:p.Val618Ala | |
| ENST00000450420.5:c.225T>C | ENSP00000393006.1:n.225T>C | |
| ENST00000455445.6:c.1424T>C | ENSP00000398272.2:p.Val475Ala | |
| ENST00000456676.6:c.1915T>C | ||
| ENST00000458205.6:c.1424T>C | ENSP00000402667.2:p.Val475Ala | |
| ENST00000536378.5:c.1424T>C | ENSP00000444286.2:p.Val475Ala | |
| ENST00000539477.5:c.1424T>C | ENSP00000443665.1:p.Val475Ala | |
| NM_000249.3:c.2147T>C , LRG_216t1:c.2147T>C | NP_000240.1:p.Val716Ala | |
| NM_001167617.1:c.1853T>C | NP_001161089.1:p.Val618Ala | |
| NM_001167618.1:c.1424T>C | NP_001161090.1:p.Val475Ala | |
| NM_001167619.1:c.1424T>C | NP_001161091.1:p.Val475Ala | |
| NM_001258271.1:c.1940T>C | NP_001245200.1:p.Val647Ala | |
| NM_001258273.1:c.1424T>C | NP_001245202.1:p.Val475Ala | |
| NM_001258274.1:c.1424T>C | NP_001245203.1:p.Val475Ala | |
| XM_005265161.1:c.1940T>C | XP_005265218.1:p.Val647Ala | |
| XM_005265163.1:c.1424T>C | XP_005265220.1:p.Val475Ala | |
| XM_005265164.1:c.1424T>C | XP_005265221.1:p.Val475Ala | |
| XM_005265166.1:c.1124T>C | XP_005265223.1:p.Val375Ala | |
| XM_011533727.1:c.1073T>C | XP_011532029.1:p.Val358Ala | |
| NM_001167617.2:c.1853T>C | NP_001161089.1:p.Val618Ala | |
| NM_001167618.2:c.1424T>C | NP_001161090.1:p.Val475Ala | |
| NM_001167619.2:c.1424T>C | NP_001161091.1:p.Val475Ala | |
| NM_001258274.2:c.1424T>C | NP_001245203.1:p.Val475Ala | |
| NM_001354615.1:c.1424T>C | NP_001341544.1:p.Val475Ala | |
| NM_001354616.1:c.1424T>C | NP_001341545.1:p.Val475Ala | |
| NM_001354617.1:c.1424T>C | NP_001341546.1:p.Val475Ala | |
| NM_001354618.1:c.1424T>C | NP_001341547.1:p.Val475Ala | |
| NM_001354619.1:c.1424T>C | NP_001341548.1:p.Val475Ala | |
| NM_001354620.1:c.1853T>C | NP_001341549.1:p.Val618Ala | |
| NM_001354621.1:c.1124T>C | NP_001341550.1:p.Val375Ala | |
| NM_001354622.1:c.1124T>C | NP_001341551.1:p.Val375Ala | |
| NM_001354623.1:c.1124T>C | NP_001341552.1:p.Val375Ala | |
| NM_001354624.1:c.1073T>C | NP_001341553.1:p.Val358Ala | |
| NM_001354625.1:c.1073T>C | NP_001341554.1:p.Val358Ala | |
| NM_001354626.1:c.1073T>C | NP_001341555.1:p.Val358Ala | |
| NM_001354627.1:c.1073T>C | NP_001341556.1:p.Val358Ala | |
| NM_001354628.1:c.2054T>C | NP_001341557.1:p.Val685Ala | |
| NM_001354629.1:c.2048T>C | NP_001341558.1:p.Val683Ala | |
| NM_001354630.1:c.1982T>C | NP_001341559.1:p.Val661Ala | |
| XM_005265161.2:c.1940T>C | XP_005265218.1:p.Val647Ala | |
| XM_017006450.2:c.1124T>C | XP_016861939.1:p.Val375Ala | |
| NM_000249.4:c.2147T>C MANE Select | NP_000240.1:p.Val716Ala | |
| NM_001167617.3:c.1853T>C | NP_001161089.1:p.Val618Ala | |
| NM_001167618.3:c.1424T>C | NP_001161090.1:p.Val475Ala | |
| NM_001167619.3:c.1424T>C | NP_001161091.1:p.Val475Ala | |
| NM_001258271.2:c.1940T>C | NP_001245200.1:p.Val647Ala | |
| NM_001258273.2:c.1424T>C | NP_001245202.1:p.Val475Ala | |
| NM_001258274.3:c.1424T>C | NP_001245203.1:p.Val475Ala | |
| NM_001354615.2:c.1424T>C | NP_001341544.1:p.Val475Ala | |
| NM_001354616.2:c.1424T>C | NP_001341545.1:p.Val475Ala | |
| NM_001354617.2:c.1424T>C | NP_001341546.1:p.Val475Ala | |
| NM_001354618.2:c.1424T>C | NP_001341547.1:p.Val475Ala | |
| NM_001354619.2:c.1424T>C | NP_001341548.1:p.Val475Ala | |
| NM_001354620.2:c.1853T>C | NP_001341549.1:p.Val618Ala | |
| NM_001354621.2:c.1124T>C | NP_001341550.1:p.Val375Ala | |
| NM_001354622.2:c.1124T>C | NP_001341551.1:p.Val375Ala | |
| NM_001354623.2:c.1124T>C | NP_001341552.1:p.Val375Ala | |
| NM_001354624.2:c.1073T>C | NP_001341553.1:p.Val358Ala | |
| NM_001354625.2:c.1073T>C | NP_001341554.1:p.Val358Ala | |
| NM_001354626.2:c.1073T>C | NP_001341555.1:p.Val358Ala | |
| NM_001354627.2:c.1073T>C | NP_001341556.1:p.Val358Ala | |
| NM_001354628.2:c.2054T>C | NP_001341557.1:p.Val685Ala | |
| NM_001354629.2:c.2048T>C | NP_001341558.1:p.Val683Ala | |
| NM_001354630.2:c.1982T>C | NP_001341559.1:p.Val661Ala |