Linked Data
dbSNP Id:
rs760532587
ExAC:
8:1806139 A / G
gnomAD v2:
8-1806139-A-G
gnomAD v3:
8-1857973-A-G
gnomAD v4:
8-1857973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1857973A>G , CM000670.2:g.1857973A>G | GRCh38 |
| NC_000008.10:g.1806139A>G , CM000670.1:g.1806139A>G | GRCh37 |
| NC_000008.9:g.1793546A>G | NCBI36 |
| NG_008480.1:g.38991A>G , LRG_234:g.38991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.51A>G MANE Select | ENSP00000340297.3:p.Lys17= | |
| ENST00000635773.1:c.510A>G | ||
| ENST00000635855.1:c.*2A>G | ENSP00000489726.1:n.*2A>G | |
| ENST00000636175.1:c.441A>G | ||
| ENST00000349830.7:c.51A>G | ENSP00000340297.3:p.Lys17= | |
| ENST00000398564.5:c.123A>G | ENSP00000381571.1:p.Lys41= | |
| ENST00000518288.5:c.123A>G | ENSP00000431012.1:p.Lys41= | |
| ENST00000520359.5:c.51A>G | ENSP00000427909.1:p.Lys17= | |
| NM_001308152.1:c.51A>G | NP_001295081.1:p.Lys17= | |
| NM_001308153.1:c.123A>G | NP_001295082.1:p.Lys41= | |
| NM_014629.2:c.51A>G , LRG_234t1:c.51A>G | NP_055444.2:p.Lys17= | |
| NM_014629.3:c.51A>G | NP_055444.2:p.Lys17= | |
| XM_005266041.2:c.51A>G | XP_005266098.1:p.Lys17= | |
| XM_011534766.1:c.51A>G | XP_011533068.1:p.Lys17= | |
| XM_011534767.1:c.51A>G | XP_011533069.1:p.Lys17= | |
| XM_011534768.1:c.51A>G | XP_011533070.1:p.Lys17= | |
| XM_011534769.1:c.6A>G | XP_011533071.1:p.Lys2= | |
| XM_011534770.1:c.51A>G | XP_011533072.1:p.Lys17= | |
| XM_005266041.4:c.51A>G | XP_005266098.1:p.Lys17= | |
| XM_011534767.2:c.51A>G | XP_011533069.1:p.Lys17= | |
| XM_011534770.2:c.51A>G | XP_011533072.1:p.Lys17= | |
| XM_017014003.1:c.123A>G | XP_016869492.1:p.Lys41= | |
| XM_024447334.1:c.51A>G | XP_024303102.1:p.Lys17= | |
| XM_024447335.1:c.135A>G | XP_024303103.1:p.Lys45= | |
| NM_014629.4:c.51A>G MANE Select | NP_055444.2:p.Lys17= | |
| NM_001308152.2:c.51A>G | NP_001295081.1:p.Lys17= | |
| NM_001308153.2:c.123A>G | NP_001295082.1:p.Lys41= |