Linked Data
dbSNP Id:
rs770975148
ExAC:
20:62038190 T / A
gnomAD v2:
20-62038190-T-A
gnomAD v4:
20-63406837-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406837T>A , CM000682.2:g.63406837T>A | GRCh38 |
| NC_000020.10:g.62038190T>A , CM000682.1:g.62038190T>A | GRCh37 |
| NC_000020.9:g.61508634T>A | NCBI36 |
| NG_009004.1:g.70804A>T | |
| NG_009004.2:g.70804A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2480A>T | ENSP00000516702.1:p.Gln827Leu | |
| ENST00000359125.7:c.2426A>T MANE Select | ENSP00000352035.2:p.Gln809Leu | |
| ENST00000637193.1:c.1823A>T | ENSP00000490734.1:p.Gln608Leu | |
| ENST00000344462.8:c.2333A>T | ENSP00000339611.4:p.Gln778Leu | |
| ENST00000357249.6:c.1994A>T | ENSP00000349789.3:p.Gln665Leu | |
| ENST00000359125.6:c.2426A>T | ENSP00000352035.2:p.Gln809Leu | |
| ENST00000360480.7:c.2342A>T | ENSP00000353668.3:p.Gln781Leu | |
| ENST00000370224.5:c.2241+209A>T | ENSP00000359244.2:n.2241+209A>T | |
| ENST00000625514.2:c.2205+209A>T | ENSP00000486040.1:n.2205+209A>T | |
| ENST00000626839.2:c.2372A>T | ENSP00000486706.1:p.Gln791Leu | |
| ENST00000629241.2:c.2133+209A>T | ENSP00000487142.1:n.2133+209A>T | |
| ENST00000629676.2:c.1680-5994A>T | ENSP00000486194.1:n.1680-5994A>T | |
| NM_004518.4:c.2342A>T | NP_004509.2:p.Gln781Leu | |
| NM_172106.1:c.2372A>T | NP_742104.1:p.Gln791Leu | |
| NM_172107.2:c.2426A>T | NP_742105.1:p.Gln809Leu | |
| NM_172108.3:c.2333A>T | NP_742106.1:p.Gln778Leu | |
| XM_006723787.1:c.2468A>T | XP_006723850.1:p.Gln823Leu | |
| XM_011528807.1:c.2534A>T | XP_011527109.1:p.Gln845Leu | |
| XM_011528808.1:c.2531A>T | XP_011527110.1:p.Gln844Leu | |
| XM_011528809.1:c.2504A>T | XP_011527111.1:p.Gln835Leu | |
| XM_011528810.1:c.2480A>T | XP_011527112.1:p.Gln827Leu | |
| XM_011528811.1:c.2450A>T | XP_011527113.1:p.Gln817Leu | |
| XM_011528812.1:c.2423A>T | XP_011527114.1:p.Gln808Leu | |
| XM_011528813.1:c.2408A>T | XP_011527115.1:p.Gln803Leu | |
| XM_011528814.1:c.2015A>T | XP_011527116.1:p.Gln672Leu | |
| NM_004518.5:c.2342A>T | NP_004509.2:p.Gln781Leu | |
| NM_172106.2:c.2372A>T | NP_742104.1:p.Gln791Leu | |
| NM_172107.3:c.2426A>T | NP_742105.1:p.Gln809Leu | |
| NM_172108.4:c.2333A>T | NP_742106.1:p.Gln778Leu | |
| XM_011528810.2:c.2480A>T | XP_011527112.1:p.Gln827Leu | |
| XM_011528811.2:c.2450A>T | XP_011527113.1:p.Gln817Leu | |
| XM_017027841.2:c.2477A>T | XP_016883330.1:p.Gln826Leu | |
| XM_017027842.2:c.2414A>T | XP_016883331.1:p.Gln805Leu | |
| XM_017027843.1:c.2411A>T | XP_016883332.1:p.Gln804Leu | |
| XM_017027844.2:c.2369A>T | XP_016883333.1:p.Gln790Leu | |
| XM_017027845.1:c.1442A>T | XP_016883334.1:p.Gln481Leu | |
| NM_004518.6:c.2342A>T | NP_004509.2:p.Gln781Leu | |
| NM_172106.3:c.2372A>T | NP_742104.1:p.Gln791Leu | |
| NM_172107.4:c.2426A>T MANE Select | NP_742105.1:p.Gln809Leu | |
| NM_172108.5:c.2333A>T | NP_742106.1:p.Gln778Leu | |
| NM_001382235.1:c.2480A>T | NP_001369164.1:p.Gln827Leu |