Linked Data
ClinVar Variation Id:
15991
dbSNP Id:
rs121918118
ExAC:
7:31010798 T / A
gnomAD v2:
7-31010798-T-A
gnomAD v3:
7-30971183-T-A
gnomAD v4:
7-30971183-T-A
PubMed:
PMID:11232012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30971183T>A , CM000669.2:g.30971183T>A | GRCh38 |
| NC_000007.13:g.31010798T>A , CM000669.1:g.31010798T>A | GRCh37 |
| NC_000007.12:g.30977323T>A | NCBI36 |
| NG_021416.1:g.12163T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326139.7:c.431T>A MANE Select | ENSP00000320180.2:p.Leu144His | |
| ENST00000326139.6:c.431T>A | ENSP00000320180.2:p.Leu144His | |
| ENST00000337750.9:c.174+1219T>A | ENSP00000338184.4:n.174+1219T>A | |
| ENST00000396227.6:c.239T>A | ENSP00000379529.2:p.Leu80His | |
| ENST00000409316.5:c.-117T>A | ENSP00000386602.1:n.-117T>A | |
| ENST00000409904.7:c.239T>A | ENSP00000387113.3:p.Leu80His | |
| ENST00000489974.5:n.204T>A | ||
| NM_000823.3:c.431T>A | NP_000814.2:p.Leu144His | |
| XM_011515263.1:c.239T>A | XP_011513565.1:p.Leu80His | |
| NM_000823.4:c.431T>A MANE Select | NP_000814.2:p.Leu144His |