Linked Data
dbSNP Id:
rs759066149
ExAC:
20:31023826 C / G
gnomAD v2:
20-31023826-C-G
gnomAD v4:
20-32436023-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436023C>G , CM000682.2:g.32436023C>G | GRCh38 |
| NC_000020.10:g.31023826C>G , CM000682.1:g.31023826C>G | GRCh37 |
| NC_000020.9:g.30487487C>G | NCBI36 |
| NG_027868.1:g.82680C>G , LRG_630:g.82680C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3311C>G MANE Select | ENSP00000364839.4:p.Thr1104Ser | |
| ENST00000646985.1:c.3128C>G | ENSP00000495053.1:p.Thr1043Ser | |
| ENST00000647223.1:n.5664C>G | ||
| ENST00000651418.1:c.1869+1442C>G | ENSP00000499150.1:n.1869+1442C>G | |
| ENST00000306058.9:c.3296C>G | ENSP00000305119.5:p.Thr1099Ser | |
| ENST00000375687.8:c.3311C>G | ENSP00000364839.4:p.Thr1104Ser | |
| ENST00000613218.4:c.3311C>G | ENSP00000480487.1:p.Thr1104Ser | |
| ENST00000620121.4:c.3311C>G | ENSP00000481978.1:p.Thr1104Ser | |
| NM_015338.5:c.3311C>G , LRG_630t1:c.3311C>G | NP_056153.2:p.Thr1104Ser | |
| XM_006723727.2:c.3308C>G | XP_006723790.1:p.Thr1103Ser | |
| XM_006723728.2:c.3281C>G | XP_006723791.1:p.Thr1094Ser | |
| XM_006723730.2:c.3227C>G | XP_006723793.1:p.Thr1076Ser | |
| XM_006723732.2:c.3128C>G | XP_006723795.1:p.Thr1043Ser | |
| XM_006723733.1:c.2627C>G | XP_006723796.1:p.Thr876Ser | |
| XM_011528647.1:c.3575C>G | XP_011526949.1:p.Thr1192Ser | |
| XM_011528648.1:c.3572C>G | XP_011526950.1:p.Thr1191Ser | |
| XM_011528649.1:c.3491C>G | XP_011526951.1:p.Thr1164Ser | |
| XM_011528650.1:c.3422C>G | XP_011526952.1:p.Thr1141Ser | |
| XM_011528651.1:c.3290C>G | XP_011526953.1:p.Thr1097Ser | |
| XM_011528652.1:c.3227C>G | XP_011526954.1:p.Thr1076Ser | |
| NM_001363734.1:c.3128C>G | NP_001350663.1:p.Thr1043Ser | |
| XM_006723727.3:c.3308C>G | XP_006723790.1:p.Thr1103Ser | |
| XM_006723728.3:c.3281C>G | XP_006723791.1:p.Thr1094Ser | |
| XM_006723730.4:c.3227C>G | XP_006723793.1:p.Thr1076Ser | |
| XM_011528648.3:c.3572C>G | XP_011526950.1:p.Thr1191Ser | |
| XM_011528652.2:c.3227C>G | XP_011526954.1:p.Thr1076Ser | |
| XM_017027704.1:c.3227C>G | XP_016883193.1:p.Thr1076Ser | |
| XM_017027705.1:c.3227C>G | XP_016883194.1:p.Thr1076Ser | |
| XM_017027706.1:c.3158C>G | XP_016883195.1:p.Thr1053Ser | |
| NM_015338.6:c.3311C>G MANE Select | NP_056153.2:p.Thr1104Ser |