Linked Data
dbSNP Id:
rs374632491
ExAC:
20:31023963 G / C
gnomAD v2:
20-31023963-G-C
gnomAD v3:
20-32436160-G-C
gnomAD v4:
20-32436160-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436160G>C , CM000682.2:g.32436160G>C | GRCh38 |
| NC_000020.10:g.31023963G>C , CM000682.1:g.31023963G>C | GRCh37 |
| NC_000020.9:g.30487624G>C | NCBI36 |
| NG_027868.1:g.82817G>C , LRG_630:g.82817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3448G>C MANE Select | ENSP00000364839.4:p.Gly1150Arg | |
| ENST00000646985.1:c.3265G>C | ENSP00000495053.1:p.Gly1089Arg | |
| ENST00000647223.1:n.5801G>C | ||
| ENST00000651418.1:c.1869+1579G>C | ENSP00000499150.1:n.1869+1579G>C | |
| ENST00000306058.9:c.3433G>C | ENSP00000305119.5:p.Gly1145Arg | |
| ENST00000375687.8:c.3448G>C | ENSP00000364839.4:p.Gly1150Arg | |
| ENST00000613218.4:c.3448G>C | ENSP00000480487.1:p.Gly1150Arg | |
| ENST00000620121.4:c.3448G>C | ENSP00000481978.1:p.Gly1150Arg | |
| NM_015338.5:c.3448G>C , LRG_630t1:c.3448G>C | NP_056153.2:p.Gly1150Arg | |
| XM_006723727.2:c.3445G>C | XP_006723790.1:p.Gly1149Arg | |
| XM_006723728.2:c.3418G>C | XP_006723791.1:p.Gly1140Arg | |
| XM_006723730.2:c.3364G>C | XP_006723793.1:p.Gly1122Arg | |
| XM_006723732.2:c.3265G>C | XP_006723795.1:p.Gly1089Arg | |
| XM_006723733.1:c.2764G>C | XP_006723796.1:p.Gly922Arg | |
| XM_011528647.1:c.3712G>C | XP_011526949.1:p.Gly1238Arg | |
| XM_011528648.1:c.3709G>C | XP_011526950.1:p.Gly1237Arg | |
| XM_011528649.1:c.3628G>C | XP_011526951.1:p.Gly1210Arg | |
| XM_011528650.1:c.3559G>C | XP_011526952.1:p.Gly1187Arg | |
| XM_011528651.1:c.3427G>C | XP_011526953.1:p.Gly1143Arg | |
| XM_011528652.1:c.3364G>C | XP_011526954.1:p.Gly1122Arg | |
| NM_001363734.1:c.3265G>C | NP_001350663.1:p.Gly1089Arg | |
| XM_006723727.3:c.3445G>C | XP_006723790.1:p.Gly1149Arg | |
| XM_006723728.3:c.3418G>C | XP_006723791.1:p.Gly1140Arg | |
| XM_006723730.4:c.3364G>C | XP_006723793.1:p.Gly1122Arg | |
| XM_011528648.3:c.3709G>C | XP_011526950.1:p.Gly1237Arg | |
| XM_011528652.2:c.3364G>C | XP_011526954.1:p.Gly1122Arg | |
| XM_017027704.1:c.3364G>C | XP_016883193.1:p.Gly1122Arg | |
| XM_017027705.1:c.3364G>C | XP_016883194.1:p.Gly1122Arg | |
| XM_017027706.1:c.3295G>C | XP_016883195.1:p.Gly1099Arg | |
| NM_015338.6:c.3448G>C MANE Select | NP_056153.2:p.Gly1150Arg |