Linked Data
dbSNP Id:
rs747916498
ExAC:
20:31024627 A / G
gnomAD v2:
20-31024627-A-G
gnomAD v3:
20-32436824-A-G
gnomAD v4:
20-32436824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436824A>G , CM000682.2:g.32436824A>G | GRCh38 |
| NC_000020.10:g.31024627A>G , CM000682.1:g.31024627A>G | GRCh37 |
| NC_000020.9:g.30488288A>G | NCBI36 |
| NG_027868.1:g.83481A>G , LRG_630:g.83481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.4112A>G MANE Select | ENSP00000364839.4:p.Lys1371Arg | |
| ENST00000646985.1:c.3929A>G | ENSP00000495053.1:p.Lys1310Arg | |
| ENST00000647223.1:n.6465A>G | ||
| ENST00000651418.1:c.1870-1606A>G | ENSP00000499150.1:n.1870-1606A>G | |
| ENST00000306058.9:c.4097A>G | ENSP00000305119.5:p.Lys1366Arg | |
| ENST00000375687.8:c.4112A>G | ENSP00000364839.4:p.Lys1371Arg | |
| ENST00000613218.4:c.4112A>G | ENSP00000480487.1:p.Lys1371Arg | |
| ENST00000620121.4:c.4112A>G | ENSP00000481978.1:p.Lys1371Arg | |
| NM_015338.5:c.4112A>G , LRG_630t1:c.4112A>G | NP_056153.2:p.Lys1371Arg | |
| XM_006723727.2:c.4109A>G | XP_006723790.1:p.Lys1370Arg | |
| XM_006723728.2:c.4082A>G | XP_006723791.1:p.Lys1361Arg | |
| XM_006723730.2:c.4028A>G | XP_006723793.1:p.Lys1343Arg | |
| XM_006723732.2:c.3929A>G | XP_006723795.1:p.Lys1310Arg | |
| XM_006723733.1:c.3428A>G | XP_006723796.1:p.Lys1143Arg | |
| XM_011528647.1:c.4376A>G | XP_011526949.1:p.Lys1459Arg | |
| XM_011528648.1:c.4373A>G | XP_011526950.1:p.Lys1458Arg | |
| XM_011528649.1:c.4292A>G | XP_011526951.1:p.Lys1431Arg | |
| XM_011528650.1:c.4223A>G | XP_011526952.1:p.Lys1408Arg | |
| XM_011528651.1:c.4091A>G | XP_011526953.1:p.Lys1364Arg | |
| XM_011528652.1:c.4028A>G | XP_011526954.1:p.Lys1343Arg | |
| NM_001363734.1:c.3929A>G | NP_001350663.1:p.Lys1310Arg | |
| XM_006723727.3:c.4109A>G | XP_006723790.1:p.Lys1370Arg | |
| XM_006723728.3:c.4082A>G | XP_006723791.1:p.Lys1361Arg | |
| XM_006723730.4:c.4028A>G | XP_006723793.1:p.Lys1343Arg | |
| XM_011528648.3:c.4373A>G | XP_011526950.1:p.Lys1458Arg | |
| XM_011528652.2:c.4028A>G | XP_011526954.1:p.Lys1343Arg | |
| XM_017027704.1:c.4028A>G | XP_016883193.1:p.Lys1343Arg | |
| XM_017027705.1:c.4028A>G | XP_016883194.1:p.Lys1343Arg | |
| XM_017027706.1:c.3959A>G | XP_016883195.1:p.Lys1320Arg | |
| NM_015338.6:c.4112A>G MANE Select | NP_056153.2:p.Lys1371Arg |