Linked Data
ClinVar Variation Id:
89590
ClinVar RCV Id:
RCV000115447
RCV000662924
RCV000656855
RCV001190167
RCV001521973
RCV003149729
RCV003492406
dbSNP Id:
rs56198082
ExAC:
3:37035011 A / G
gnomAD v2:
3-37035011-A-G
gnomAD v3:
3-36993520-A-G
gnomAD v4:
3-36993520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993520A>G , CM000665.2:g.36993520A>G | GRCh38 |
| NC_000003.11:g.37035011A>G , CM000665.1:g.37035011A>G | GRCh37 |
| NC_000003.10:g.37010015A>G | NCBI36 |
| NG_007109.2:g.5171A>G , LRG_216:g.5171A>G | |
| NG_008418.1:g.4785T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.-28A>G | ENSP00000416476.2:n.-28A>G | |
| ENST00000450420.6:c.-28A>G | ENSP00000393006.2:n.-28A>G | |
| ENST00000456676.7:c.-28A>G | ENSP00000416687.3:n.-28A>G | |
| ENST00000458009.6:c.-28A>G | ENSP00000411066.2:n.-28A>G | |
| ENST00000616768.6:c.-28A>G | ENSP00000480669.3:n.-28A>G | |
| ENST00000673673.2:c.-28A>G | ENSP00000500979.2:n.-28A>G | |
| ENST00000231790.8:c.-28A>G MANE Select | ENSP00000231790.3:n.-28A>G | |
| ENST00000673713.1:n.4A>G | ||
| ENST00000673899.1:c.-28A>G | ENSP00000501030.1:n.-28A>G | |
| ENST00000673972.1:c.-28A>G | ENSP00000501281.1:n.-28A>G | |
| ENST00000674111.1:c.-28A>G | ENSP00000501162.1:n.-28A>G | |
| ENST00000231790.6:c.-28A>G | ENSP00000231790.2:n.-28A>G | |
| ENST00000457004.5:c.-28A>G | ENSP00000407773.1:n.-28A>G | |
| ENST00000536378.5:c.-660A>G | ENSP00000444286.2:n.-660A>G | |
| NM_000249.3:c.-28A>G , LRG_216t1:c.-28A>G | NP_000240.1:n.-28A>G | |
| NM_001258271.1:c.-28A>G | NP_001245200.1:n.-28A>G | |
| NM_001258273.1:c.-660A>G | NP_001245202.1:n.-660A>G | |
| XM_005265161.1:c.-28A>G | XP_005265218.1:n.-28A>G | |
| XM_005265164.1:c.-746A>G | XP_005265221.1:n.-746A>G | |
| NM_001167617.2:c.-544A>G | NP_001161089.1:n.-544A>G | |
| NM_001167618.2:c.-973A>G | NP_001161090.1:n.-973A>G | |
| NM_001167619.2:c.-886A>G | NP_001161091.1:n.-886A>G | |
| NM_001258274.2:c.-1123A>G | NP_001245203.1:n.-1123A>G | |
| NM_001354615.1:c.-654A>G | NP_001341544.1:n.-654A>G | |
| NM_001354616.1:c.-654A>G | NP_001341545.1:n.-654A>G | |
| NM_001354617.1:c.-746A>G | NP_001341546.1:n.-746A>G | |
| NM_001354618.1:c.-978A>G | NP_001341547.1:n.-978A>G | |
| NM_001354619.1:c.-1102A>G | NP_001341548.1:n.-1102A>G | |
| NM_001354620.1:c.-312A>G | NP_001341549.1:n.-312A>G | |
| NM_001354621.1:c.-1071A>G | NP_001341550.1:n.-1071A>G | |
| NM_001354622.1:c.-1184A>G | NP_001341551.1:n.-1184A>G | |
| NM_001354623.1:c.-1093A>G | NP_001341552.1:n.-1093A>G | |
| NM_001354624.1:c.-854A>G | NP_001341553.1:n.-854A>G | |
| NM_001354625.1:c.-752A>G | NP_001341554.1:n.-752A>G | |
| NM_001354626.1:c.-849A>G | NP_001341555.1:n.-849A>G | |
| NM_001354627.1:c.-1081A>G | NP_001341556.1:n.-1081A>G | |
| NM_001354628.1:c.-28A>G | NP_001341557.1:n.-28A>G | |
| NM_001354629.1:c.-28A>G | NP_001341558.1:n.-28A>G | |
| NM_001354630.1:c.-28A>G | NP_001341559.1:n.-28A>G | |
| XM_005265161.2:c.-28A>G | XP_005265218.1:n.-28A>G | |
| XM_017006450.2:c.-839A>G | XP_016861939.1:n.-839A>G | |
| NM_000249.4:c.-28A>G MANE Select | NP_000240.1:n.-28A>G | |
| NM_001167617.3:c.-544A>G | NP_001161089.1:n.-544A>G | |
| NM_001167618.3:c.-973A>G | NP_001161090.1:n.-973A>G | |
| NM_001167619.3:c.-886A>G | NP_001161091.1:n.-886A>G | |
| NM_001258271.2:c.-28A>G | NP_001245200.1:n.-28A>G | |
| NM_001258273.2:c.-660A>G | NP_001245202.1:n.-660A>G | |
| NM_001258274.3:c.-1123A>G | NP_001245203.1:n.-1123A>G | |
| NM_001354615.2:c.-654A>G | NP_001341544.1:n.-654A>G | |
| NM_001354616.2:c.-654A>G | NP_001341545.1:n.-654A>G | |
| NM_001354617.2:c.-746A>G | NP_001341546.1:n.-746A>G | |
| NM_001354618.2:c.-978A>G | NP_001341547.1:n.-978A>G | |
| NM_001354619.2:c.-1102A>G | NP_001341548.1:n.-1102A>G | |
| NM_001354620.2:c.-312A>G | NP_001341549.1:n.-312A>G | |
| NM_001354621.2:c.-1071A>G | NP_001341550.1:n.-1071A>G | |
| NM_001354622.2:c.-1184A>G | NP_001341551.1:n.-1184A>G | |
| NM_001354623.2:c.-1093A>G | NP_001341552.1:n.-1093A>G | |
| NM_001354624.2:c.-854A>G | NP_001341553.1:n.-854A>G | |
| NM_001354625.2:c.-752A>G | NP_001341554.1:n.-752A>G | |
| NM_001354626.2:c.-849A>G | NP_001341555.1:n.-849A>G | |
| NM_001354627.2:c.-1081A>G | NP_001341556.1:n.-1081A>G | |
| NM_001354628.2:c.-28A>G | NP_001341557.1:n.-28A>G | |
| NM_001354629.2:c.-28A>G | NP_001341558.1:n.-28A>G | |
| NM_001354630.2:c.-28A>G | NP_001341559.1:n.-28A>G |