Linked Data
ClinVar Variation Id:
640043
ClinVar RCV Id:
RCV000792982
dbSNP Id:
rs886042073
gnomAD v2:
17-40690710-G-A
gnomAD v3:
17-42538692-G-A
gnomAD v4:
17-42538692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538692G>A , CM000679.2:g.42538692G>A | GRCh38 |
| NC_000017.10:g.40690710G>A , CM000679.1:g.40690710G>A | GRCh37 |
| NC_000017.9:g.37944236G>A | NCBI36 |
| NG_011552.1:g.7760G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.701G>A MANE Select | ENSP00000225927.1:p.Arg234His | |
| ENST00000225927.6:c.701G>A | ENSP00000225927.1:p.Arg234His | |
| ENST00000586516.5:c.303G>A | ||
| ENST00000591587.1:c.296G>A | ENSP00000467836.1:p.Arg99His | |
| NM_000263.3:c.701G>A | NP_000254.2:p.Arg234His | |
| XM_006721920.2:c.-42G>A | XP_006721983.1:n.-42G>A | |
| XM_011524840.1:c.-42G>A | XP_011523142.1:n.-42G>A | |
| XM_017024687.1:c.-42G>A | XP_016880176.1:n.-42G>A | |
| XM_024450771.1:c.758G>A | XP_024306539.1:p.Arg253His | |
| XM_024450772.1:c.-42G>A | XP_024306540.1:n.-42G>A | |
| NM_000263.4:c.701G>A MANE Select | NP_000254.2:p.Arg234His |