Linked Data
dbSNP Id:
rs2011869783
gnomAD v4:
20-32436315-A-G
MyVariant Identifiers:
chr20:g.31024118A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436315A>G , CM000682.2:g.32436315A>G | GRCh38 |
| NC_000020.10:g.31024118A>G , CM000682.1:g.31024118A>G | GRCh37 |
| NC_000020.9:g.30487779A>G | NCBI36 |
| NG_027868.1:g.82972A>G , LRG_630:g.82972A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3603A>G MANE Select | ENSP00000364839.4:p.Gln1201= | |
| ENST00000646985.1:c.3420A>G | ENSP00000495053.1:p.Gln1140= | |
| ENST00000647223.1:n.5956A>G | ||
| ENST00000651418.1:c.1869+1734A>G | ENSP00000499150.1:n.1869+1734A>G | |
| ENST00000306058.9:c.3588A>G | ENSP00000305119.5:p.Gln1196= | |
| ENST00000375687.8:c.3603A>G | ENSP00000364839.4:p.Gln1201= | |
| ENST00000613218.4:c.3603A>G | ENSP00000480487.1:p.Gln1201= | |
| ENST00000620121.4:c.3603A>G | ENSP00000481978.1:p.Gln1201= | |
| NM_015338.5:c.3603A>G , LRG_630t1:c.3603A>G | NP_056153.2:p.Gln1201= | |
| XM_006723727.2:c.3600A>G | XP_006723790.1:p.Gln1200= | |
| XM_006723728.2:c.3573A>G | XP_006723791.1:p.Gln1191= | |
| XM_006723730.2:c.3519A>G | XP_006723793.1:p.Gln1173= | |
| XM_006723732.2:c.3420A>G | XP_006723795.1:p.Gln1140= | |
| XM_006723733.1:c.2919A>G | XP_006723796.1:p.Gln973= | |
| XM_011528647.1:c.3867A>G | XP_011526949.1:p.Gln1289= | |
| XM_011528648.1:c.3864A>G | XP_011526950.1:p.Gln1288= | |
| XM_011528649.1:c.3783A>G | XP_011526951.1:p.Gln1261= | |
| XM_011528650.1:c.3714A>G | XP_011526952.1:p.Gln1238= | |
| XM_011528651.1:c.3582A>G | XP_011526953.1:p.Gln1194= | |
| XM_011528652.1:c.3519A>G | XP_011526954.1:p.Gln1173= | |
| NM_001363734.1:c.3420A>G | NP_001350663.1:p.Gln1140= | |
| XM_006723727.3:c.3600A>G | XP_006723790.1:p.Gln1200= | |
| XM_006723728.3:c.3573A>G | XP_006723791.1:p.Gln1191= | |
| XM_006723730.4:c.3519A>G | XP_006723793.1:p.Gln1173= | |
| XM_011528648.3:c.3864A>G | XP_011526950.1:p.Gln1288= | |
| XM_011528652.2:c.3519A>G | XP_011526954.1:p.Gln1173= | |
| XM_017027704.1:c.3519A>G | XP_016883193.1:p.Gln1173= | |
| XM_017027705.1:c.3519A>G | XP_016883194.1:p.Gln1173= | |
| XM_017027706.1:c.3450A>G | XP_016883195.1:p.Gln1150= | |
| NM_015338.6:c.3603A>G MANE Select | NP_056153.2:p.Gln1201= |