Linked Data
ClinVar Variation Id:
480532
dbSNP Id:
rs1555567202
gnomAD v3:
17-35101366-C-T
gnomAD v4:
17-35101366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101366C>T , CM000679.2:g.35101366C>T | GRCh38 |
| NC_000017.10:g.33428385C>T , CM000679.1:g.33428385C>T | GRCh37 |
| NC_000017.9:g.30452498C>T | NCBI36 |
| NG_031858.1:g.23504G>A , LRG_516:g.23504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.604-1G>A | ENSP00000468273.3:n.604-1G>A | |
| ENST00000587405.6:c.382-1G>A | ENSP00000466478.2:n.382-1G>A | |
| ENST00000590016.6:c.799-1G>A | ENSP00000466399.1:n.799-1G>A | |
| ENST00000592577.6:c.382-1G>A | ENSP00000466839.2:n.382-1G>A | |
| ENST00000345365.11:c.739-1G>A MANE Select | ENSP00000338790.6:n.739-1G>A | |
| ENST00000335858.11:c.403-1G>A | ENSP00000338408.6:n.403-1G>A | |
| ENST00000345365.10:c.739-1G>A | ENSP00000338790.6:n.739-1G>A | |
| ENST00000394589.8:c.739-1G>A | ENSP00000378090.4:n.739-1G>A | |
| ENST00000460118.6:c.208-1G>A | ENSP00000464356.2:n.208-1G>A | |
| ENST00000586044.5:c.*470-1G>A | ENSP00000465584.1:n.*470-1G>A | |
| ENST00000586210.5:c.*333-1G>A | ENSP00000465612.1:n.*333-1G>A | |
| ENST00000587405.5:c.382-1G>A | ENSP00000466478.1:n.382-1G>A | |
| ENST00000587977.5:c.*479-1G>A | ENSP00000466587.1:n.*479-1G>A | |
| ENST00000588372.5:c.*222-1G>A | ENSP00000468764.1:n.*222-1G>A | |
| ENST00000588594.5:c.*335-1G>A | ENSP00000465366.1:n.*335-1G>A | |
| ENST00000590016.5:c.799-1G>A | ENSP00000466399.1:n.799-1G>A | |
| ENST00000591723.5:c.208-1G>A | ENSP00000467986.1:n.208-1G>A | |
| ENST00000592181.1:c.382-1G>A | ENSP00000464799.1:n.382-1G>A | |
| ENST00000592577.5:c.745-1G>A | ENSP00000466839.1:n.745-1G>A | |
| ENST00000593039.5:c.262-1G>A | ENSP00000466834.1:n.262-1G>A | |
| NM_001142571.1:c.799-1G>A | NP_001136043.1:n.799-1G>A | |
| NM_002878.3:c.739-1G>A , LRG_516t1:c.739-1G>A | NP_002869.3:n.739-1G>A | |
| NM_133629.2:c.403-1G>A | NP_598332.1:n.403-1G>A | |
| NR_037711.1:n.876-1G>A | ||
| NR_037712.1:n.741-1G>A | ||
| NR_037714.1:n.491-1G>A | ||
| NM_001142571.2:c.799-1G>A | NP_001136043.1:n.799-1G>A | |
| NM_133629.3:c.403-1G>A | NP_598332.1:n.403-1G>A | |
| NR_037711.2:n.765-1G>A | ||
| NR_037712.2:n.630-1G>A | ||
| NM_002878.4:c.739-1G>A MANE Select | NP_002869.3:n.739-1G>A |