Linked Data
ClinVar Variation Id:
405381
dbSNP Id:
rs774363593
ExAC:
3:37035079 C / T
gnomAD v2:
3-37035079-C-T
gnomAD v4:
3-36993588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993588C>T , CM000665.2:g.36993588C>T | GRCh38 |
| NC_000003.11:g.37035079C>T , CM000665.1:g.37035079C>T | GRCh37 |
| NC_000003.10:g.37010083C>T | NCBI36 |
| NG_007109.2:g.5239C>T , LRG_216:g.5239C>T | |
| NG_008418.1:g.4717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.41C>T | ENSP00000416476.2:p.Thr14Ile | |
| ENST00000450420.6:c.41C>T | ENSP00000393006.2:p.Thr14Ile | |
| ENST00000456676.7:c.41C>T | ENSP00000416687.3:p.Thr14Ile | |
| ENST00000458009.6:c.41C>T | ENSP00000411066.2:p.Thr14Ile | |
| ENST00000616768.6:c.41C>T | ENSP00000480669.3:p.Thr14Ile | |
| ENST00000673673.2:c.41C>T | ENSP00000500979.2:p.Thr14Ile | |
| ENST00000231790.8:c.41C>T MANE Select | ENSP00000231790.3:p.Thr14Ile | |
| ENST00000432299.6:c.41C>T | ENSP00000416783.1:p.Thr14Ile | |
| ENST00000442249.6:n.56C>T | ||
| ENST00000673713.1:n.72C>T | ||
| ENST00000673715.1:c.41C>T | ENSP00000501301.1:p.Thr14Ile | |
| ENST00000673897.1:c.41C>T | ENSP00000501109.1:p.Thr14Ile | |
| ENST00000673899.1:c.41C>T | ENSP00000501030.1:p.Thr14Ile | |
| ENST00000673947.1:c.41C>T | ENSP00000501304.1:p.Thr14Ile | |
| ENST00000673972.1:c.41C>T | ENSP00000501281.1:p.Thr14Ile | |
| ENST00000674111.1:c.41C>T | ENSP00000501162.1:p.Thr14Ile | |
| ENST00000231790.6:c.41C>T | ENSP00000231790.2:p.Thr14Ile | |
| ENST00000432299.5:c.41C>T | ENSP00000416783.1:p.Thr14Ile | |
| ENST00000442249.5:c.41C>T | ENSP00000387511.1:p.Thr14Ile | |
| ENST00000454028.5:c.41C>T | ENSP00000392649.1:p.Thr14Ile | |
| ENST00000456676.6:c.16C>T | ||
| ENST00000457004.5:c.41C>T | ENSP00000407773.1:p.Thr14Ile | |
| ENST00000536378.5:c.-592C>T | ENSP00000444286.2:n.-592C>T | |
| NM_000249.3:c.41C>T , LRG_216t1:c.41C>T | NP_000240.1:p.Thr14Ile | |
| NM_001258271.1:c.41C>T | NP_001245200.1:p.Thr14Ile | |
| NM_001258273.1:c.-592C>T | NP_001245202.1:n.-592C>T | |
| XM_005265161.1:c.41C>T | XP_005265218.1:p.Thr14Ile | |
| XM_005265164.1:c.-678C>T | XP_005265221.1:n.-678C>T | |
| NM_001167617.2:c.-476C>T | NP_001161089.1:n.-476C>T | |
| NM_001167618.2:c.-905C>T | NP_001161090.1:n.-905C>T | |
| NM_001167619.2:c.-818C>T | NP_001161091.1:n.-818C>T | |
| NM_001258274.2:c.-1055C>T | NP_001245203.1:n.-1055C>T | |
| NM_001354615.1:c.-586C>T | NP_001341544.1:n.-586C>T | |
| NM_001354616.1:c.-586C>T | NP_001341545.1:n.-586C>T | |
| NM_001354617.1:c.-678C>T | NP_001341546.1:n.-678C>T | |
| NM_001354618.1:c.-910C>T | NP_001341547.1:n.-910C>T | |
| NM_001354619.1:c.-1034C>T | NP_001341548.1:n.-1034C>T | |
| NM_001354620.1:c.-244C>T | NP_001341549.1:n.-244C>T | |
| NM_001354621.1:c.-1003C>T | NP_001341550.1:n.-1003C>T | |
| NM_001354622.1:c.-1116C>T | NP_001341551.1:n.-1116C>T | |
| NM_001354623.1:c.-1025C>T | NP_001341552.1:n.-1025C>T | |
| NM_001354624.1:c.-786C>T | NP_001341553.1:n.-786C>T | |
| NM_001354625.1:c.-684C>T | NP_001341554.1:n.-684C>T | |
| NM_001354626.1:c.-781C>T | NP_001341555.1:n.-781C>T | |
| NM_001354627.1:c.-1013C>T | NP_001341556.1:n.-1013C>T | |
| NM_001354628.1:c.41C>T | NP_001341557.1:p.Thr14Ile | |
| NM_001354629.1:c.41C>T | NP_001341558.1:p.Thr14Ile | |
| NM_001354630.1:c.41C>T | NP_001341559.1:p.Thr14Ile | |
| XM_005265161.2:c.41C>T | XP_005265218.1:p.Thr14Ile | |
| XM_017006450.2:c.-771C>T | XP_016861939.1:n.-771C>T | |
| NM_000249.4:c.41C>T MANE Select | NP_000240.1:p.Thr14Ile | |
| NM_001167617.3:c.-476C>T | NP_001161089.1:n.-476C>T | |
| NM_001167618.3:c.-905C>T | NP_001161090.1:n.-905C>T | |
| NM_001167619.3:c.-818C>T | NP_001161091.1:n.-818C>T | |
| NM_001258271.2:c.41C>T | NP_001245200.1:p.Thr14Ile | |
| NM_001258273.2:c.-592C>T | NP_001245202.1:n.-592C>T | |
| NM_001258274.3:c.-1055C>T | NP_001245203.1:n.-1055C>T | |
| NM_001354615.2:c.-586C>T | NP_001341544.1:n.-586C>T | |
| NM_001354616.2:c.-586C>T | NP_001341545.1:n.-586C>T | |
| NM_001354617.2:c.-678C>T | NP_001341546.1:n.-678C>T | |
| NM_001354618.2:c.-910C>T | NP_001341547.1:n.-910C>T | |
| NM_001354619.2:c.-1034C>T | NP_001341548.1:n.-1034C>T | |
| NM_001354620.2:c.-244C>T | NP_001341549.1:n.-244C>T | |
| NM_001354621.2:c.-1003C>T | NP_001341550.1:n.-1003C>T | |
| NM_001354622.2:c.-1116C>T | NP_001341551.1:n.-1116C>T | |
| NM_001354623.2:c.-1025C>T | NP_001341552.1:n.-1025C>T | |
| NM_001354624.2:c.-786C>T | NP_001341553.1:n.-786C>T | |
| NM_001354625.2:c.-684C>T | NP_001341554.1:n.-684C>T | |
| NM_001354626.2:c.-781C>T | NP_001341555.1:n.-781C>T | |
| NM_001354627.2:c.-1013C>T | NP_001341556.1:n.-1013C>T | |
| NM_001354628.2:c.41C>T | NP_001341557.1:p.Thr14Ile | |
| NM_001354629.2:c.41C>T | NP_001341558.1:p.Thr14Ile | |
| NM_001354630.2:c.41C>T | NP_001341559.1:p.Thr14Ile |