Linked Data
ClinVar Variation Id:
205045
dbSNP Id:
rs143103435
ExAC:
20:61987414 C / T
gnomAD v2:
20-61987414-C-T
gnomAD v3:
20-63356062-C-T
gnomAD v4:
20-63356062-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63356062C>T , CM000682.2:g.63356062C>T | GRCh38 |
| NC_000020.10:g.61987414C>T , CM000682.1:g.61987414C>T | GRCh37 |
| NC_000020.9:g.61457858C>T | NCBI36 |
| NG_011931.1:g.10282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.296G>A MANE Select | ENSP00000359285.4:p.Arg99His | |
| ENST00000636652.1:n.9G>A | ||
| ENST00000370263.8:c.296G>A | ENSP00000359285.4:p.Arg99His | |
| ENST00000463705.5:n.1032-5035G>A | ||
| ENST00000467563.3:n.348G>A | ||
| ENST00000498043.6:c.220G>A | ||
| ENST00000615287.4:c.-18G>A | ENSP00000483388.1:n.-18G>A | |
| ENST00000627000.1:c.321G>A | ENSP00000486914.1:p.Ala107= | |
| ENST00000627869.1:n.77G>A | ||
| ENST00000628665.1:n.321G>A | ||
| NM_000744.6:c.296G>A | NP_000735.1:p.Arg99His | |
| NM_001256573.1:c.-251G>A | NP_001243502.1:n.-251G>A | |
| NR_046317.1:n.552G>A | ||
| XM_011528524.1:c.-18G>A | XP_011526826.1:n.-18G>A | |
| XM_017027625.2:c.-251G>A | XP_016883114.1:n.-251G>A | |
| NM_001256573.2:c.-251G>A | NP_001243502.1:n.-251G>A | |
| NR_046317.2:n.505G>A | ||
| NM_000744.7:c.296G>A MANE Select | NP_000735.1:p.Arg99His |