Linked Data
ClinVar Variation Id:
2908017
ClinVar RCV Id:
RCV003598640
dbSNP Id:
rs1179567656
gnomAD v2:
20-44520009-G-A
gnomAD v3:
20-45891370-G-A
gnomAD v4:
20-45891370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891370G>A , CM000682.2:g.45891370G>A | GRCh38 |
| NC_000020.10:g.44520009G>A , CM000682.1:g.44520009G>A | GRCh37 |
| NC_000020.9:g.43953416G>A | NCBI36 |
| NG_008291.1:g.5419G>A | |
| NG_033108.1:g.4918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.408G>A | ||
| ENST00000606066.3:n.408G>A | ||
| ENST00000607187.3:n.408G>A | ||
| ENST00000607212.3:n.49G>A | ||
| ENST00000607814.7:n.15G>A | ||
| ENST00000678622.2:n.408G>A | ||
| ENST00000678691.2:n.408G>A | ||
| ENST00000678988.2:n.1030G>A | ||
| ENST00000679053.2:n.408G>A | ||
| ENST00000679343.2:n.408G>A | ||
| ENST00000684198.1:n.408G>A | ||
| ENST00000372484.8:c.45G>A | ENSP00000361562.3:p.Gly15= | |
| ENST00000419493.3:c.-10G>A | ENSP00000408533.3:n.-10G>A | |
| ENST00000480961.2:n.18G>A | ||
| ENST00000606066.2:n.56G>A | ||
| ENST00000606394.6:c.45G>A | ENSP00000475827.1:p.Gly15= | |
| ENST00000607212.2:n.49G>A | ||
| ENST00000607814.6:n.15G>A | ||
| ENST00000646241.3:c.-10G>A MANE Select | ENSP00000493613.2:n.-10G>A | |
| ENST00000676526.1:c.45G>A | ENSP00000504209.1:p.Gly15= | |
| ENST00000676657.1:c.-10G>A | ENSP00000504158.1:n.-10G>A | |
| ENST00000677394.1:c.45G>A | ENSP00000504790.1:p.Gly15= | |
| ENST00000677525.1:c.-31G>A | ENSP00000504197.1:n.-31G>A | |
| ENST00000678025.1:c.-10G>A | ENSP00000503463.1:n.-10G>A | |
| ENST00000678078.1:c.45G>A | ENSP00000502993.1:p.Gly15= | |
| ENST00000678331.1:c.-10G>A | ENSP00000504524.1:n.-10G>A | |
| ENST00000678512.1:n.28G>A | ||
| ENST00000678622.1:n.36G>A | ||
| ENST00000678939.1:c.-10G>A | ENSP00000503404.1:n.-10G>A | |
| ENST00000678988.1:n.1030G>A | ||
| ENST00000679053.1:n.36G>A | ||
| ENST00000679343.1:n.29G>A | ||
| ENST00000191018.9:c.-56G>A | ENSP00000191018.5:n.-56G>A | |
| ENST00000354880.9:c.45G>A | ENSP00000346952.4:p.Gly15= | |
| ENST00000372484.7:c.45G>A | ENSP00000361562.3:p.Gly15= | |
| ENST00000606066.1:n.36G>A | ||
| ENST00000606394.5:c.45G>A | ENSP00000475827.1:p.Gly15= | |
| ENST00000606788.5:c.45G>A | ENSP00000476235.1:p.Gly15= | |
| ENST00000607212.1:n.14G>A | ||
| ENST00000607814.5:n.16G>A | ||
| ENST00000607841.5:n.36G>A | ||
| NM_000308.2:c.45G>A | NP_000299.2:p.Gly15= | |
| NM_000308.3:c.45G>A | NP_000299.2:p.Gly15= | |
| NM_001127695.1:c.-56G>A | NP_001121167.1:n.-56G>A | |
| NM_001127695.2:c.-56G>A | NP_001121167.1:n.-56G>A | |
| NM_001167594.1:c.45G>A | NP_001161066.1:p.Gly15= | |
| NM_001167594.2:c.45G>A | NP_001161066.1:p.Gly15= | |
| NR_133656.1:n.1227G>A | ||
| NM_000308.4:c.-10G>A MANE Select | NP_000299.3:n.-10G>A | |
| NM_001127695.3:c.-56G>A | NP_001121167.1:n.-56G>A | |
| NM_001167594.3:c.-10G>A | NP_001161066.2:n.-10G>A | |
| NR_133656.2:n.36G>A |