Linked Data
ClinVar Variation Id:
182859
dbSNP Id:
rs374382703
ExAC:
17:33433505 A / C
gnomAD v2:
17-33433505-A-C
gnomAD v3:
17-35106486-A-C
gnomAD v4:
17-35106486-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106486A>C , CM000679.2:g.35106486A>C | GRCh38 |
| NC_000017.10:g.33433505A>C , CM000679.1:g.33433505A>C | GRCh37 |
| NC_000017.9:g.30457618A>C | NCBI36 |
| NG_031858.1:g.18384T>G , LRG_516:g.18384T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586186.3:c.346-5T>G | ENSP00000468273.3:n.346-5T>G | |
| ENST00000587405.6:c.124-5T>G | ENSP00000466478.2:n.124-5T>G | |
| ENST00000590016.6:c.541-5T>G | ENSP00000466399.1:n.541-5T>G | |
| ENST00000590631.2:n.437-5T>G | ||
| ENST00000592577.6:c.124-5T>G | ENSP00000466839.2:n.124-5T>G | |
| ENST00000345365.11:c.481-5T>G MANE Select | ENSP00000338790.6:n.481-5T>G | |
| ENST00000335858.11:c.145-5T>G | ENSP00000338408.6:n.145-5T>G | |
| ENST00000345365.10:c.481-5T>G | ENSP00000338790.6:n.481-5T>G | |
| ENST00000394589.8:c.481-5T>G | ENSP00000378090.4:n.481-5T>G | |
| ENST00000415064.6:n.631-5T>G | ||
| ENST00000460118.6:c.-51-5T>G | ENSP00000464356.2:n.-51-5T>G | |
| ENST00000585343.5:c.563-5T>G | ||
| ENST00000585947.5:n.377-5T>G | ||
| ENST00000585982.5:n.501-5T>G | ||
| ENST00000586044.5:c.*212-5T>G | ENSP00000465584.1:n.*212-5T>G | |
| ENST00000586186.2:c.249-5T>G | ||
| ENST00000586210.5:c.*75-5T>G | ENSP00000465612.1:n.*75-5T>G | |
| ENST00000587405.5:c.124-5T>G | ENSP00000466478.1:n.124-5T>G | |
| ENST00000587977.5:c.*221-5T>G | ENSP00000466587.1:n.*221-5T>G | |
| ENST00000587982.5:n.274-5T>G | ||
| ENST00000588372.5:c.124-5T>G | ENSP00000468764.1:n.124-5T>G | |
| ENST00000588594.5:c.*77-5T>G | ENSP00000465366.1:n.*77-5T>G | |
| ENST00000590016.5:c.541-5T>G | ENSP00000466399.1:n.541-5T>G | |
| ENST00000590631.1:c.-51-5T>G | ENSP00000465033.1:n.-51-5T>G | |
| ENST00000591723.5:c.-51-5T>G | ENSP00000467986.1:n.-51-5T>G | |
| ENST00000592181.1:c.124-5T>G | ENSP00000464799.1:n.124-5T>G | |
| ENST00000592430.5:n.450-5T>G | ||
| ENST00000592577.5:c.487-5T>G | ENSP00000466839.1:n.487-5T>G | |
| ENST00000592850.5:c.346-5T>G | ||
| ENST00000592928.2:n.167-5T>G | ||
| ENST00000593039.5:c.4-5T>G | ENSP00000466834.1:n.4-5T>G | |
| NM_001142571.1:c.541-5T>G | NP_001136043.1:n.541-5T>G | |
| NM_002878.3:c.481-5T>G , LRG_516t1:c.481-5T>G | NP_002869.3:n.481-5T>G | |
| NM_133629.2:c.145-5T>G | NP_598332.1:n.145-5T>G | |
| NR_037711.1:n.618-5T>G | ||
| NR_037712.1:n.483-5T>G | ||
| NR_037714.1:n.233-5T>G | ||
| NM_001142571.2:c.541-5T>G | NP_001136043.1:n.541-5T>G | |
| NM_133629.3:c.145-5T>G | NP_598332.1:n.145-5T>G | |
| NR_037711.2:n.507-5T>G | ||
| NR_037712.2:n.372-5T>G | ||
| NM_002878.4:c.481-5T>G MANE Select | NP_002869.3:n.481-5T>G |