Linked Data
dbSNP Id:
rs751425807
ExAC:
20:62038152 C / G
gnomAD v2:
20-62038152-C-G
gnomAD v4:
20-63406799-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406799C>G , CM000682.2:g.63406799C>G | GRCh38 |
| NC_000020.10:g.62038152C>G , CM000682.1:g.62038152C>G | GRCh37 |
| NC_000020.9:g.61508596C>G | NCBI36 |
| NG_009004.1:g.70842G>C | |
| NG_009004.2:g.70842G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2518G>C | ENSP00000516702.1:p.Ala840Pro | |
| ENST00000359125.7:c.2464G>C MANE Select | ENSP00000352035.2:p.Ala822Pro | |
| ENST00000637193.1:c.1861G>C | ENSP00000490734.1:p.Ala621Pro | |
| ENST00000344462.8:c.2371G>C | ENSP00000339611.4:p.Ala791Pro | |
| ENST00000357249.6:c.2032G>C | ENSP00000349789.3:p.Ala678Pro | |
| ENST00000359125.6:c.2464G>C | ENSP00000352035.2:p.Ala822Pro | |
| ENST00000360480.7:c.2380G>C | ENSP00000353668.3:p.Ala794Pro | |
| ENST00000370224.5:c.2241+247G>C | ENSP00000359244.2:n.2241+247G>C | |
| ENST00000625514.2:c.2205+247G>C | ENSP00000486040.1:n.2205+247G>C | |
| ENST00000626839.2:c.2410G>C | ENSP00000486706.1:p.Ala804Pro | |
| ENST00000629241.2:c.2133+247G>C | ENSP00000487142.1:n.2133+247G>C | |
| ENST00000629676.2:c.1680-5956G>C | ENSP00000486194.1:n.1680-5956G>C | |
| NM_004518.4:c.2380G>C | NP_004509.2:p.Ala794Pro | |
| NM_172106.1:c.2410G>C | NP_742104.1:p.Ala804Pro | |
| NM_172107.2:c.2464G>C | NP_742105.1:p.Ala822Pro | |
| NM_172108.3:c.2371G>C | NP_742106.1:p.Ala791Pro | |
| XM_006723787.1:c.2506G>C | XP_006723850.1:p.Ala836Pro | |
| XM_011528807.1:c.2572G>C | XP_011527109.1:p.Ala858Pro | |
| XM_011528808.1:c.2569G>C | XP_011527110.1:p.Ala857Pro | |
| XM_011528809.1:c.2542G>C | XP_011527111.1:p.Ala848Pro | |
| XM_011528810.1:c.2518G>C | XP_011527112.1:p.Ala840Pro | |
| XM_011528811.1:c.2488G>C | XP_011527113.1:p.Ala830Pro | |
| XM_011528812.1:c.2461G>C | XP_011527114.1:p.Ala821Pro | |
| XM_011528813.1:c.2446G>C | XP_011527115.1:p.Ala816Pro | |
| XM_011528814.1:c.2053G>C | XP_011527116.1:p.Ala685Pro | |
| NM_004518.5:c.2380G>C | NP_004509.2:p.Ala794Pro | |
| NM_172106.2:c.2410G>C | NP_742104.1:p.Ala804Pro | |
| NM_172107.3:c.2464G>C | NP_742105.1:p.Ala822Pro | |
| NM_172108.4:c.2371G>C | NP_742106.1:p.Ala791Pro | |
| XM_011528810.2:c.2518G>C | XP_011527112.1:p.Ala840Pro | |
| XM_011528811.2:c.2488G>C | XP_011527113.1:p.Ala830Pro | |
| XM_017027841.2:c.2515G>C | XP_016883330.1:p.Ala839Pro | |
| XM_017027842.2:c.2452G>C | XP_016883331.1:p.Ala818Pro | |
| XM_017027843.1:c.2449G>C | XP_016883332.1:p.Ala817Pro | |
| XM_017027844.2:c.2407G>C | XP_016883333.1:p.Ala803Pro | |
| XM_017027845.1:c.1480G>C | XP_016883334.1:p.Ala494Pro | |
| NM_004518.6:c.2380G>C | NP_004509.2:p.Ala794Pro | |
| NM_172106.3:c.2410G>C | NP_742104.1:p.Ala804Pro | |
| NM_172107.4:c.2464G>C MANE Select | NP_742105.1:p.Ala822Pro | |
| NM_172108.5:c.2371G>C | NP_742106.1:p.Ala791Pro | |
| NM_001382235.1:c.2518G>C | NP_001369164.1:p.Ala840Pro |