Linked Data
ClinVar Variation Id:
657341
ClinVar RCV Id:
RCV000813930
dbSNP Id:
rs1471695726
gnomAD v2:
20-44520013-G-A
gnomAD v3:
20-45891374-G-A
gnomAD v4:
20-45891374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891374G>A , CM000682.2:g.45891374G>A | GRCh38 |
| NC_000020.10:g.44520013G>A , CM000682.1:g.44520013G>A | GRCh37 |
| NC_000020.9:g.43953420G>A | NCBI36 |
| NG_008291.1:g.5423G>A | |
| NG_033108.1:g.4914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.412G>A | ||
| ENST00000606066.3:n.412G>A | ||
| ENST00000607187.3:n.412G>A | ||
| ENST00000607212.3:n.53G>A | ||
| ENST00000607814.7:n.19G>A | ||
| ENST00000678622.2:n.412G>A | ||
| ENST00000678691.2:n.412G>A | ||
| ENST00000678988.2:n.1034G>A | ||
| ENST00000679053.2:n.412G>A | ||
| ENST00000679343.2:n.412G>A | ||
| ENST00000684198.1:n.412G>A | ||
| ENST00000372484.8:c.49G>A | ENSP00000361562.3:p.Ala17Thr | |
| ENST00000419493.3:c.-6G>A | ENSP00000408533.3:n.-6G>A | |
| ENST00000480961.2:n.22G>A | ||
| ENST00000606066.2:n.60G>A | ||
| ENST00000606394.6:c.49G>A | ENSP00000475827.1:p.Ala17Thr | |
| ENST00000607212.2:n.53G>A | ||
| ENST00000607814.6:n.19G>A | ||
| ENST00000646241.3:c.-6G>A MANE Select | ENSP00000493613.2:n.-6G>A | |
| ENST00000676526.1:c.49G>A | ENSP00000504209.1:p.Ala17Thr | |
| ENST00000676657.1:c.-6G>A | ENSP00000504158.1:n.-6G>A | |
| ENST00000677394.1:c.49G>A | ENSP00000504790.1:p.Ala17Thr | |
| ENST00000677525.1:c.-27G>A | ENSP00000504197.1:n.-27G>A | |
| ENST00000678025.1:c.-6G>A | ENSP00000503463.1:n.-6G>A | |
| ENST00000678078.1:c.49G>A | ENSP00000502993.1:p.Ala17Thr | |
| ENST00000678331.1:c.-6G>A | ENSP00000504524.1:n.-6G>A | |
| ENST00000678512.1:n.32G>A | ||
| ENST00000678622.1:n.40G>A | ||
| ENST00000678939.1:c.-6G>A | ENSP00000503404.1:n.-6G>A | |
| ENST00000678988.1:n.1034G>A | ||
| ENST00000679053.1:n.40G>A | ||
| ENST00000679343.1:n.33G>A | ||
| ENST00000191018.9:c.-52G>A | ENSP00000191018.5:n.-52G>A | |
| ENST00000354880.9:c.49G>A | ENSP00000346952.4:p.Ala17Thr | |
| ENST00000372484.7:c.49G>A | ENSP00000361562.3:p.Ala17Thr | |
| ENST00000606066.1:n.40G>A | ||
| ENST00000606394.5:c.49G>A | ENSP00000475827.1:p.Ala17Thr | |
| ENST00000606788.5:c.49G>A | ENSP00000476235.1:p.Ala17Thr | |
| ENST00000607212.1:n.18G>A | ||
| ENST00000607814.5:n.20G>A | ||
| ENST00000607841.5:n.40G>A | ||
| NM_000308.2:c.49G>A | NP_000299.2:p.Ala17Thr | |
| NM_000308.3:c.49G>A | NP_000299.2:p.Ala17Thr | |
| NM_001127695.1:c.-52G>A | NP_001121167.1:n.-52G>A | |
| NM_001127695.2:c.-52G>A | NP_001121167.1:n.-52G>A | |
| NM_001167594.1:c.49G>A | NP_001161066.1:p.Ala17Thr | |
| NM_001167594.2:c.49G>A | NP_001161066.1:p.Ala17Thr | |
| NR_133656.1:n.1231G>A | ||
| NM_000308.4:c.-6G>A MANE Select | NP_000299.3:n.-6G>A | |
| NM_001127695.3:c.-52G>A | NP_001121167.1:n.-52G>A | |
| NM_001167594.3:c.-6G>A | NP_001161066.2:n.-6G>A | |
| NR_133656.2:n.40G>A |