Linked Data
dbSNP Id:
rs77885044
ExAC:
22:28501414 C / T
gnomAD v2:
22-28501414-C-T
gnomAD v3:
22-28105426-C-T
gnomAD v4:
22-28105426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28105426C>T , CM000684.2:g.28105426C>T | GRCh38 |
| NC_000022.10:g.28501414C>T , CM000684.1:g.28501414C>T | GRCh37 |
| NC_000022.9:g.26831414C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397906.7:c.3160G>A MANE Select | ENSP00000381003.2:p.Glu1054Lys | |
| ENST00000397906.6:c.3160G>A | ENSP00000381003.2:p.Glu1054Lys | |
| ENST00000612946.4:c.2779G>A | ENSP00000479834.1:p.Glu927Lys | |
| NM_001145418.1:c.3160G>A | NP_001138890.1:p.Glu1054Lys | |
| XM_005261405.2:c.3160G>A | XP_005261462.1:p.Glu1054Lys | |
| XM_006724171.2:c.2806G>A | XP_006724234.1:p.Glu936Lys | |
| XM_011530018.1:c.3082G>A | XP_011528320.1:p.Glu1028Lys | |
| XM_011530019.1:c.3160G>A | XP_011528321.1:p.Glu1054Lys | |
| XM_011530020.1:c.3160G>A | XP_011528322.1:p.Glu1054Lys | |
| XM_011530021.1:c.3160G>A | XP_011528323.1:p.Glu1054Lys | |
| XM_011530022.1:c.3160G>A | XP_011528324.1:p.Glu1054Lys | |
| XM_006724171.4:c.2806G>A | XP_006724234.1:p.Glu936Lys | |
| XM_011530018.3:c.3082G>A | XP_011528320.1:p.Glu1028Lys | |
| XM_011530019.2:c.3160G>A | XP_011528321.1:p.Glu1054Lys | |
| XM_011530021.3:c.3160G>A | XP_011528323.1:p.Glu1054Lys | |
| XM_017028673.2:c.3070G>A | XP_016884162.1:p.Glu1024Lys | |
| NM_001145418.2:c.3160G>A MANE Select | NP_001138890.1:p.Glu1054Lys | |
| NM_001393403.1:c.3160G>A | NP_001380332.1:p.Glu1054Lys | |
| NM_001393404.1:c.2806G>A | NP_001380333.1:p.Glu936Lys | |
| NM_001393405.1:c.2806G>A | NP_001380334.1:p.Glu936Lys |