Linked Data
ClinVar Variation Id:
461419
ClinVar RCV Id:
RCV000536198
dbSNP Id:
rs751425807
ExAC:
20:62038152 C / T
gnomAD v2:
20-62038152-C-T
gnomAD v3:
20-63406799-C-T
gnomAD v4:
20-63406799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406799C>T , CM000682.2:g.63406799C>T | GRCh38 |
| NC_000020.10:g.62038152C>T , CM000682.1:g.62038152C>T | GRCh37 |
| NC_000020.9:g.61508596C>T | NCBI36 |
| NG_009004.1:g.70842G>A | |
| NG_009004.2:g.70842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2518G>A | ENSP00000516702.1:p.Ala840Thr | |
| ENST00000359125.7:c.2464G>A MANE Select | ENSP00000352035.2:p.Ala822Thr | |
| ENST00000637193.1:c.1861G>A | ENSP00000490734.1:p.Ala621Thr | |
| ENST00000344462.8:c.2371G>A | ENSP00000339611.4:p.Ala791Thr | |
| ENST00000357249.6:c.2032G>A | ENSP00000349789.3:p.Ala678Thr | |
| ENST00000359125.6:c.2464G>A | ENSP00000352035.2:p.Ala822Thr | |
| ENST00000360480.7:c.2380G>A | ENSP00000353668.3:p.Ala794Thr | |
| ENST00000370224.5:c.2241+247G>A | ENSP00000359244.2:n.2241+247G>A | |
| ENST00000625514.2:c.2205+247G>A | ENSP00000486040.1:n.2205+247G>A | |
| ENST00000626839.2:c.2410G>A | ENSP00000486706.1:p.Ala804Thr | |
| ENST00000629241.2:c.2133+247G>A | ENSP00000487142.1:n.2133+247G>A | |
| ENST00000629676.2:c.1680-5956G>A | ENSP00000486194.1:n.1680-5956G>A | |
| NM_004518.4:c.2380G>A | NP_004509.2:p.Ala794Thr | |
| NM_172106.1:c.2410G>A | NP_742104.1:p.Ala804Thr | |
| NM_172107.2:c.2464G>A | NP_742105.1:p.Ala822Thr | |
| NM_172108.3:c.2371G>A | NP_742106.1:p.Ala791Thr | |
| XM_006723787.1:c.2506G>A | XP_006723850.1:p.Ala836Thr | |
| XM_011528807.1:c.2572G>A | XP_011527109.1:p.Ala858Thr | |
| XM_011528808.1:c.2569G>A | XP_011527110.1:p.Ala857Thr | |
| XM_011528809.1:c.2542G>A | XP_011527111.1:p.Ala848Thr | |
| XM_011528810.1:c.2518G>A | XP_011527112.1:p.Ala840Thr | |
| XM_011528811.1:c.2488G>A | XP_011527113.1:p.Ala830Thr | |
| XM_011528812.1:c.2461G>A | XP_011527114.1:p.Ala821Thr | |
| XM_011528813.1:c.2446G>A | XP_011527115.1:p.Ala816Thr | |
| XM_011528814.1:c.2053G>A | XP_011527116.1:p.Ala685Thr | |
| NM_004518.5:c.2380G>A | NP_004509.2:p.Ala794Thr | |
| NM_172106.2:c.2410G>A | NP_742104.1:p.Ala804Thr | |
| NM_172107.3:c.2464G>A | NP_742105.1:p.Ala822Thr | |
| NM_172108.4:c.2371G>A | NP_742106.1:p.Ala791Thr | |
| XM_011528810.2:c.2518G>A | XP_011527112.1:p.Ala840Thr | |
| XM_011528811.2:c.2488G>A | XP_011527113.1:p.Ala830Thr | |
| XM_017027841.2:c.2515G>A | XP_016883330.1:p.Ala839Thr | |
| XM_017027842.2:c.2452G>A | XP_016883331.1:p.Ala818Thr | |
| XM_017027843.1:c.2449G>A | XP_016883332.1:p.Ala817Thr | |
| XM_017027844.2:c.2407G>A | XP_016883333.1:p.Ala803Thr | |
| XM_017027845.1:c.1480G>A | XP_016883334.1:p.Ala494Thr | |
| NM_004518.6:c.2380G>A | NP_004509.2:p.Ala794Thr | |
| NM_172106.3:c.2410G>A | NP_742104.1:p.Ala804Thr | |
| NM_172107.4:c.2464G>A MANE Select | NP_742105.1:p.Ala822Thr | |
| NM_172108.5:c.2371G>A | NP_742106.1:p.Ala791Thr | |
| NM_001382235.1:c.2518G>A | NP_001369164.1:p.Ala840Thr |