Linked Data
dbSNP Id:
rs773000055
ExAC:
8:1806133 A / C
gnomAD v2:
8-1806133-A-C
gnomAD v4:
8-1857967-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1857967A>C , CM000670.2:g.1857967A>C | GRCh38 |
| NC_000008.10:g.1806133A>C , CM000670.1:g.1806133A>C | GRCh37 |
| NC_000008.9:g.1793540A>C | NCBI36 |
| NG_008480.1:g.38985A>C , LRG_234:g.38985A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.45A>C MANE Select | ENSP00000340297.3:p.Glu15Asp | |
| ENST00000635773.1:c.504A>C | ||
| ENST00000635855.1:c.635A>C | ENSP00000489726.1:p.Lys212Thr | |
| ENST00000636175.1:c.435A>C | ||
| ENST00000349830.7:c.45A>C | ENSP00000340297.3:p.Glu15Asp | |
| ENST00000398564.5:c.117A>C | ENSP00000381571.1:p.Glu39Asp | |
| ENST00000518288.5:c.117A>C | ENSP00000431012.1:p.Glu39Asp | |
| ENST00000520359.5:c.45A>C | ENSP00000427909.1:p.Glu15Asp | |
| NM_001308152.1:c.45A>C | NP_001295081.1:p.Glu15Asp | |
| NM_001308153.1:c.117A>C | NP_001295082.1:p.Glu39Asp | |
| NM_014629.2:c.45A>C , LRG_234t1:c.45A>C | NP_055444.2:p.Glu15Asp | |
| NM_014629.3:c.45A>C | NP_055444.2:p.Glu15Asp | |
| XM_005266041.2:c.45A>C | XP_005266098.1:p.Glu15Asp | |
| XM_011534766.1:c.45A>C | XP_011533068.1:p.Glu15Asp | |
| XM_011534767.1:c.45A>C | XP_011533069.1:p.Glu15Asp | |
| XM_011534768.1:c.45A>C | XP_011533070.1:p.Glu15Asp | |
| XM_011534769.1:c.-1A>C | XP_011533071.1:n.-1A>C | |
| XM_011534770.1:c.45A>C | XP_011533072.1:p.Glu15Asp | |
| XM_005266041.4:c.45A>C | XP_005266098.1:p.Glu15Asp | |
| XM_011534767.2:c.45A>C | XP_011533069.1:p.Glu15Asp | |
| XM_011534770.2:c.45A>C | XP_011533072.1:p.Glu15Asp | |
| XM_017014003.1:c.117A>C | XP_016869492.1:p.Glu39Asp | |
| XM_024447334.1:c.45A>C | XP_024303102.1:p.Glu15Asp | |
| XM_024447335.1:c.129A>C | XP_024303103.1:p.Glu43Asp | |
| NM_014629.4:c.45A>C MANE Select | NP_055444.2:p.Glu15Asp | |
| NM_001308152.2:c.45A>C | NP_001295081.1:p.Glu15Asp | |
| NM_001308153.2:c.117A>C | NP_001295082.1:p.Glu39Asp |