Linked Data
ClinVar Variation Id:
220145
dbSNP Id:
rs864622396
gnomAD v2:
3-37035082-T-C
gnomAD v3:
3-36993591-T-C
gnomAD v4:
3-36993591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993591T>C , CM000665.2:g.36993591T>C | GRCh38 |
| NC_000003.11:g.37035082T>C , CM000665.1:g.37035082T>C | GRCh37 |
| NC_000003.10:g.37010086T>C | NCBI36 |
| NG_007109.2:g.5242T>C , LRG_216:g.5242T>C | |
| NG_008418.1:g.4714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.44T>C | ENSP00000416476.2:p.Val15Ala | |
| ENST00000450420.6:c.44T>C | ENSP00000393006.2:p.Val15Ala | |
| ENST00000456676.7:c.44T>C | ENSP00000416687.3:p.Val15Ala | |
| ENST00000458009.6:c.44T>C | ENSP00000411066.2:p.Val15Ala | |
| ENST00000616768.6:c.44T>C | ENSP00000480669.3:p.Val15Ala | |
| ENST00000673673.2:c.44T>C | ENSP00000500979.2:p.Val15Ala | |
| ENST00000231790.8:c.44T>C MANE Select | ENSP00000231790.3:p.Val15Ala | |
| ENST00000432299.6:c.44T>C | ENSP00000416783.1:p.Val15Ala | |
| ENST00000442249.6:n.59T>C | ||
| ENST00000673713.1:n.75T>C | ||
| ENST00000673715.1:c.44T>C | ENSP00000501301.1:p.Val15Ala | |
| ENST00000673897.1:c.44T>C | ENSP00000501109.1:p.Val15Ala | |
| ENST00000673899.1:c.44T>C | ENSP00000501030.1:p.Val15Ala | |
| ENST00000673947.1:c.44T>C | ENSP00000501304.1:p.Val15Ala | |
| ENST00000673972.1:c.44T>C | ENSP00000501281.1:p.Val15Ala | |
| ENST00000674111.1:c.44T>C | ENSP00000501162.1:p.Val15Ala | |
| ENST00000231790.6:c.44T>C | ENSP00000231790.2:p.Val15Ala | |
| ENST00000432299.5:c.44T>C | ENSP00000416783.1:p.Val15Ala | |
| ENST00000442249.5:c.44T>C | ENSP00000387511.1:p.Val15Ala | |
| ENST00000454028.5:c.44T>C | ENSP00000392649.1:p.Val15Ala | |
| ENST00000456676.6:c.19T>C | ||
| ENST00000457004.5:c.44T>C | ENSP00000407773.1:p.Val15Ala | |
| ENST00000536378.5:c.-589T>C | ENSP00000444286.2:n.-589T>C | |
| NM_000249.3:c.44T>C , LRG_216t1:c.44T>C | NP_000240.1:p.Val15Ala | |
| NM_001258271.1:c.44T>C | NP_001245200.1:p.Val15Ala | |
| NM_001258273.1:c.-589T>C | NP_001245202.1:n.-589T>C | |
| XM_005265161.1:c.44T>C | XP_005265218.1:p.Val15Ala | |
| XM_005265164.1:c.-675T>C | XP_005265221.1:n.-675T>C | |
| NM_001167617.2:c.-473T>C | NP_001161089.1:n.-473T>C | |
| NM_001167618.2:c.-902T>C | NP_001161090.1:n.-902T>C | |
| NM_001167619.2:c.-815T>C | NP_001161091.1:n.-815T>C | |
| NM_001258274.2:c.-1052T>C | NP_001245203.1:n.-1052T>C | |
| NM_001354615.1:c.-583T>C | NP_001341544.1:n.-583T>C | |
| NM_001354616.1:c.-583T>C | NP_001341545.1:n.-583T>C | |
| NM_001354617.1:c.-675T>C | NP_001341546.1:n.-675T>C | |
| NM_001354618.1:c.-907T>C | NP_001341547.1:n.-907T>C | |
| NM_001354619.1:c.-1031T>C | NP_001341548.1:n.-1031T>C | |
| NM_001354620.1:c.-241T>C | NP_001341549.1:n.-241T>C | |
| NM_001354621.1:c.-1000T>C | NP_001341550.1:n.-1000T>C | |
| NM_001354622.1:c.-1113T>C | NP_001341551.1:n.-1113T>C | |
| NM_001354623.1:c.-1022T>C | NP_001341552.1:n.-1022T>C | |
| NM_001354624.1:c.-783T>C | NP_001341553.1:n.-783T>C | |
| NM_001354625.1:c.-681T>C | NP_001341554.1:n.-681T>C | |
| NM_001354626.1:c.-778T>C | NP_001341555.1:n.-778T>C | |
| NM_001354627.1:c.-1010T>C | NP_001341556.1:n.-1010T>C | |
| NM_001354628.1:c.44T>C | NP_001341557.1:p.Val15Ala | |
| NM_001354629.1:c.44T>C | NP_001341558.1:p.Val15Ala | |
| NM_001354630.1:c.44T>C | NP_001341559.1:p.Val15Ala | |
| XM_005265161.2:c.44T>C | XP_005265218.1:p.Val15Ala | |
| XM_017006450.2:c.-768T>C | XP_016861939.1:n.-768T>C | |
| NM_000249.4:c.44T>C MANE Select | NP_000240.1:p.Val15Ala | |
| NM_001167617.3:c.-473T>C | NP_001161089.1:n.-473T>C | |
| NM_001167618.3:c.-902T>C | NP_001161090.1:n.-902T>C | |
| NM_001167619.3:c.-815T>C | NP_001161091.1:n.-815T>C | |
| NM_001258271.2:c.44T>C | NP_001245200.1:p.Val15Ala | |
| NM_001258273.2:c.-589T>C | NP_001245202.1:n.-589T>C | |
| NM_001258274.3:c.-1052T>C | NP_001245203.1:n.-1052T>C | |
| NM_001354615.2:c.-583T>C | NP_001341544.1:n.-583T>C | |
| NM_001354616.2:c.-583T>C | NP_001341545.1:n.-583T>C | |
| NM_001354617.2:c.-675T>C | NP_001341546.1:n.-675T>C | |
| NM_001354618.2:c.-907T>C | NP_001341547.1:n.-907T>C | |
| NM_001354619.2:c.-1031T>C | NP_001341548.1:n.-1031T>C | |
| NM_001354620.2:c.-241T>C | NP_001341549.1:n.-241T>C | |
| NM_001354621.2:c.-1000T>C | NP_001341550.1:n.-1000T>C | |
| NM_001354622.2:c.-1113T>C | NP_001341551.1:n.-1113T>C | |
| NM_001354623.2:c.-1022T>C | NP_001341552.1:n.-1022T>C | |
| NM_001354624.2:c.-783T>C | NP_001341553.1:n.-783T>C | |
| NM_001354625.2:c.-681T>C | NP_001341554.1:n.-681T>C | |
| NM_001354626.2:c.-778T>C | NP_001341555.1:n.-778T>C | |
| NM_001354627.2:c.-1010T>C | NP_001341556.1:n.-1010T>C | |
| NM_001354628.2:c.44T>C | NP_001341557.1:p.Val15Ala | |
| NM_001354629.2:c.44T>C | NP_001341558.1:p.Val15Ala | |
| NM_001354630.2:c.44T>C | NP_001341559.1:p.Val15Ala |