Linked Data
dbSNP Id:
rs2011902460
gnomAD v3:
20-32436576-T-C
gnomAD v4:
20-32436576-T-C
MyVariant Identifiers:
chr20:g.31024379T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436576T>C , CM000682.2:g.32436576T>C | GRCh38 |
| NC_000020.10:g.31024379T>C , CM000682.1:g.31024379T>C | GRCh37 |
| NC_000020.9:g.30488040T>C | NCBI36 |
| NG_027868.1:g.83233T>C , LRG_630:g.83233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3864T>C MANE Select | ENSP00000364839.4:p.Gly1288= | |
| ENST00000646985.1:c.3681T>C | ENSP00000495053.1:p.Gly1227= | |
| ENST00000647223.1:n.6217T>C | ||
| ENST00000651418.1:c.1870-1854T>C | ENSP00000499150.1:n.1870-1854T>C | |
| ENST00000306058.9:c.3849T>C | ENSP00000305119.5:p.Gly1283= | |
| ENST00000375687.8:c.3864T>C | ENSP00000364839.4:p.Gly1288= | |
| ENST00000613218.4:c.3864T>C | ENSP00000480487.1:p.Gly1288= | |
| ENST00000620121.4:c.3864T>C | ENSP00000481978.1:p.Gly1288= | |
| NM_015338.5:c.3864T>C , LRG_630t1:c.3864T>C | NP_056153.2:p.Gly1288= | |
| XM_006723727.2:c.3861T>C | XP_006723790.1:p.Gly1287= | |
| XM_006723728.2:c.3834T>C | XP_006723791.1:p.Gly1278= | |
| XM_006723730.2:c.3780T>C | XP_006723793.1:p.Gly1260= | |
| XM_006723732.2:c.3681T>C | XP_006723795.1:p.Gly1227= | |
| XM_006723733.1:c.3180T>C | XP_006723796.1:p.Gly1060= | |
| XM_011528647.1:c.4128T>C | XP_011526949.1:p.Gly1376= | |
| XM_011528648.1:c.4125T>C | XP_011526950.1:p.Gly1375= | |
| XM_011528649.1:c.4044T>C | XP_011526951.1:p.Gly1348= | |
| XM_011528650.1:c.3975T>C | XP_011526952.1:p.Gly1325= | |
| XM_011528651.1:c.3843T>C | XP_011526953.1:p.Gly1281= | |
| XM_011528652.1:c.3780T>C | XP_011526954.1:p.Gly1260= | |
| NM_001363734.1:c.3681T>C | NP_001350663.1:p.Gly1227= | |
| XM_006723727.3:c.3861T>C | XP_006723790.1:p.Gly1287= | |
| XM_006723728.3:c.3834T>C | XP_006723791.1:p.Gly1278= | |
| XM_006723730.4:c.3780T>C | XP_006723793.1:p.Gly1260= | |
| XM_011528648.3:c.4125T>C | XP_011526950.1:p.Gly1375= | |
| XM_011528652.2:c.3780T>C | XP_011526954.1:p.Gly1260= | |
| XM_017027704.1:c.3780T>C | XP_016883193.1:p.Gly1260= | |
| XM_017027705.1:c.3780T>C | XP_016883194.1:p.Gly1260= | |
| XM_017027706.1:c.3711T>C | XP_016883195.1:p.Gly1237= | |
| NM_015338.6:c.3864T>C MANE Select | NP_056153.2:p.Gly1288= |