Linked Data
dbSNP Id:
rs557379467
ExAC:
1:78407893 G / A
gnomAD v2:
1-78407893-G-A
gnomAD v3:
1-77942208-G-A
gnomAD v4:
1-77942208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942208G>A , CM000663.2:g.77942208G>A | GRCh38 |
| NC_000001.10:g.78407893G>A , CM000663.1:g.78407893G>A | GRCh37 |
| NC_000001.9:g.78180481G>A | NCBI36 |
| NG_016625.1:g.58694G>A , LRG_442:g.58694G>A | |
| NG_033243.2:g.41886C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1659G>A MANE Select | ENSP00000333938.7:p.Lys553= | |
| ENST00000330010.12:c.1467G>A | ENSP00000327363.8:p.Lys489= | |
| ENST00000334785.11:c.1659G>A | ENSP00000333938.7:p.Lys553= | |
| ENST00000342754.5:c.1358G>A | ||
| ENST00000470735.1:n.498G>A | ||
| ENST00000480732.2:n.1233G>A | ||
| NM_001172309.1:c.1467G>A | NP_001165780.1:p.Lys489= | |
| NM_144573.3:c.1659G>A , LRG_442t1:c.1659G>A | NP_653174.3:p.Lys553= | |
| XM_005271322.2:c.1659G>A | XP_005271379.1:p.Lys553= | |
| XM_005271323.2:c.1617G>A | XP_005271380.1:p.Lys539= | |
| XM_005271324.3:c.1467G>A | XP_005271381.1:p.Lys489= | |
| XM_005271325.2:c.1437G>A | XP_005271382.1:p.Lys479= | |
| XM_005271326.2:c.1425G>A | XP_005271383.1:p.Lys475= | |
| XM_005271327.2:c.1242G>A | XP_005271384.1:p.Lys414= | |
| XM_005271322.4:c.1659G>A | XP_005271379.1:p.Lys553= | |
| XM_005271323.4:c.1617G>A | XP_005271380.1:p.Lys539= | |
| XM_005271324.5:c.1467G>A | XP_005271381.1:p.Lys489= | |
| XM_005271325.4:c.1437G>A | XP_005271382.1:p.Lys479= | |
| XM_005271326.4:c.1425G>A | XP_005271383.1:p.Lys475= | |
| XM_005271327.4:c.1242G>A | XP_005271384.1:p.Lys414= | |
| NM_001172309.2:c.1467G>A | NP_001165780.1:p.Lys489= | |
| NM_144573.4:c.1659G>A MANE Select | NP_653174.3:p.Lys553= |