Linked Data
dbSNP Id:
rs2071430
gnomAD v2:
21-42798065-G-T
gnomAD v3:
21-41426138-G-T
gnomAD v4:
21-41426138-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41426138G>T , CM000683.2:g.41426138G>T | GRCh38 |
| NC_000021.8:g.42798065G>T , CM000683.1:g.42798065G>T | GRCh37 |
| NC_000021.7:g.41719935G>T | NCBI36 |
| NG_027788.1:g.10546G>T | |
| NG_027788.2:g.10546G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413778.6:c.-327-1068G>T | ENSP00000408498.2:n.-327-1068G>T | |
| ENST00000419044.6:c.-332G>T | ENSP00000392151.2:n.-332G>T | |
| ENST00000486275.2:n.473-1068G>T | ||
| ENST00000679445.1:c.-308-1068G>T | ENSP00000505630.1:n.-308-1068G>T | |
| ENST00000679464.1:c.-209-1617G>T | ENSP00000505874.1:n.-209-1617G>T | |
| ENST00000679626.1:c.-209-1617G>T | ENSP00000506481.1:n.-209-1617G>T | |
| ENST00000679705.1:c.-351G>T | ENSP00000506372.1:n.-351G>T | |
| ENST00000679911.1:c.-308-1068G>T | ENSP00000505189.1:n.-308-1068G>T | |
| ENST00000680182.1:c.-308-1068G>T | ENSP00000506395.1:n.-308-1068G>T | |
| ENST00000680347.1:c.-308-1068G>T | ENSP00000506183.1:n.-308-1068G>T | |
| ENST00000681191.1:c.-308-1068G>T | ENSP00000505657.1:n.-308-1068G>T | |
| ENST00000681415.1:c.-308-1068G>T | ENSP00000506062.1:n.-308-1068G>T | |
| ENST00000681849.1:c.-335G>T | ENSP00000505051.1:n.-335G>T | |
| ENST00000681857.1:c.-209-1617G>T | ENSP00000505669.1:n.-209-1617G>T | |
| ENST00000681867.1:c.-327-1068G>T | ENSP00000506690.1:n.-327-1068G>T | |
| ENST00000398600.6:c.-308-1068G>T | ENSP00000381601.2:n.-308-1068G>T | |
| ENST00000413778.5:c.-327-1068G>T | ENSP00000408498.1:n.-327-1068G>T | |
| ENST00000419044.5:c.-332G>T | ENSP00000392151.1:n.-332G>T | |
| ENST00000455164.6:c.-259G>T | ENSP00000410523.2:n.-259G>T | |
| ENST00000490220.5:n.552-1068G>T | ||
| NM_001144925.2:c.-308-1068G>T | NP_001138397.1:n.-308-1068G>T | |
| NM_001178046.2:c.-259G>T | NP_001171517.1:n.-259G>T | |
| NM_002462.4:c.-434G>T | NP_002453.2:n.-434G>T | |
| XM_005260979.1:c.-332G>T | XP_005261036.1:n.-332G>T | |
| XM_011529568.1:c.-308-1068G>T | XP_011527870.1:n.-308-1068G>T | |
| XM_005260979.2:c.-332G>T | XP_005261036.1:n.-332G>T | |
| XM_011529568.2:c.-308-1068G>T | XP_011527870.1:n.-308-1068G>T | |
| XM_017028349.2:c.-327-1068G>T | XP_016883838.1:n.-327-1068G>T | |
| XM_017028350.1:c.-351G>T | XP_016883839.1:n.-351G>T | |
| XM_017028351.2:c.-434G>T | XP_016883840.1:n.-434G>T |