Linked Data
dbSNP Id:
rs759162890
ExAC:
8:1806147 C / G
gnomAD v2:
8-1806147-C-G
gnomAD v3:
8-1857981-C-G
gnomAD v4:
8-1857981-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1857981C>G , CM000670.2:g.1857981C>G | GRCh38 |
| NC_000008.10:g.1806147C>G , CM000670.1:g.1806147C>G | GRCh37 |
| NC_000008.9:g.1793554C>G | NCBI36 |
| NG_008480.1:g.38999C>G , LRG_234:g.38999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.59C>G MANE Select | ENSP00000340297.3:p.Thr20Ser | |
| ENST00000635773.1:c.518C>G | ||
| ENST00000635855.1:c.*10C>G | ENSP00000489726.1:n.*10C>G | |
| ENST00000636175.1:c.449C>G | ||
| ENST00000349830.7:c.59C>G | ENSP00000340297.3:p.Thr20Ser | |
| ENST00000398564.5:c.131C>G | ENSP00000381571.1:p.Thr44Ser | |
| ENST00000518288.5:c.131C>G | ENSP00000431012.1:p.Thr44Ser | |
| ENST00000520359.5:c.59C>G | ENSP00000427909.1:p.Thr20Ser | |
| NM_001308152.1:c.59C>G | NP_001295081.1:p.Thr20Ser | |
| NM_001308153.1:c.131C>G | NP_001295082.1:p.Thr44Ser | |
| NM_014629.2:c.59C>G , LRG_234t1:c.59C>G | NP_055444.2:p.Thr20Ser | |
| NM_014629.3:c.59C>G | NP_055444.2:p.Thr20Ser | |
| XM_005266041.2:c.59C>G | XP_005266098.1:p.Thr20Ser | |
| XM_011534766.1:c.59C>G | XP_011533068.1:p.Thr20Ser | |
| XM_011534767.1:c.59C>G | XP_011533069.1:p.Thr20Ser | |
| XM_011534768.1:c.59C>G | XP_011533070.1:p.Thr20Ser | |
| XM_011534769.1:c.14C>G | XP_011533071.1:p.Thr5Ser | |
| XM_011534770.1:c.59C>G | XP_011533072.1:p.Thr20Ser | |
| XM_005266041.4:c.59C>G | XP_005266098.1:p.Thr20Ser | |
| XM_011534767.2:c.59C>G | XP_011533069.1:p.Thr20Ser | |
| XM_011534770.2:c.59C>G | XP_011533072.1:p.Thr20Ser | |
| XM_017014003.1:c.131C>G | XP_016869492.1:p.Thr44Ser | |
| XM_024447334.1:c.59C>G | XP_024303102.1:p.Thr20Ser | |
| XM_024447335.1:c.143C>G | XP_024303103.1:p.Thr48Ser | |
| NM_014629.4:c.59C>G MANE Select | NP_055444.2:p.Thr20Ser | |
| NM_001308152.2:c.59C>G | NP_001295081.1:p.Thr20Ser | |
| NM_001308153.2:c.131C>G | NP_001295082.1:p.Thr44Ser |