Linked Data
ClinVar Variation Id:
4742
dbSNP Id:
rs121908331
ExAC:
5:78351682 T / C
gnomAD v2:
5-78351682-T-C
gnomAD v3:
5-79055859-T-C
gnomAD v4:
5-79055859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79055859T>C , CM000667.2:g.79055859T>C | GRCh38 |
| NC_000005.9:g.78351682T>C , CM000667.1:g.78351682T>C | GRCh37 |
| NC_000005.8:g.78387438T>C | NCBI36 |
| NG_012164.1:g.18768A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255189.8:c.326A>G MANE Select | ENSP00000255189.3:p.His109Arg | |
| ENST00000255189.7:c.326A>G | ENSP00000255189.3:p.His109Arg | |
| ENST00000517853.5:c.276+7754A>G | ENSP00000428995.1:n.276+7754A>G | |
| ENST00000518477.5:c.276+7754A>G | ENSP00000427834.1:n.276+7754A>G | |
| ENST00000520388.5:n.656A>G | ||
| ENST00000521052.5:c.147A>G | ENSP00000430133.1:p.Thr49= | |
| ENST00000524206.1:c.147A>G | ENSP00000428092.1:p.Thr49= | |
| NM_013391.3:c.326A>G MANE Select | NP_037523.2:p.His109Arg | |
| NR_104002.1:n.330+7754A>G | ||
| NR_104003.1:n.330+7754A>G | ||
| XM_006714597.1:c.326A>G | XP_006714660.1:p.His109Arg | |
| XM_011543354.1:c.326A>G | XP_011541656.1:p.His109Arg | |
| XM_011543355.1:c.326A>G | XP_011541657.1:p.His109Arg | |
| XM_006714597.2:c.326A>G | XP_006714660.1:p.His109Arg | |
| XM_011543355.2:c.326A>G | XP_011541657.1:p.His109Arg | |
| NR_104002.2:n.330+7754A>G | ||
| NR_104003.2:n.330+7754A>G | ||
| NR_104002.3:n.330+7754A>G | ||
| NR_104003.3:n.330+7754A>G |