Linked Data
ClinVar Variation Id:
523225
ClinVar RCV Id:
RCV000626473
dbSNP Id:
rs758539748
ExAC:
9:138395501 G / A
gnomAD v2:
9-138395501-G-A
gnomAD v4:
9-135503655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135503655G>A , CM000671.2:g.135503655G>A | GRCh38 |
| NC_000009.11:g.138395501G>A , CM000671.1:g.138395501G>A | GRCh37 |
| NC_000009.10:g.137535322G>A | NCBI36 |
| NG_042313.1:g.8025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462948.6:c.*286G>A | ENSP00000511903.1:n.*286G>A | |
| ENST00000472852.2:c.*219G>A | ENSP00000511904.1:n.*219G>A | |
| ENST00000472946.2:n.178G>A | ||
| ENST00000485333.6:c.*244G>A | ENSP00000511905.1:n.*244G>A | |
| ENST00000488610.6:c.*302G>A | ENSP00000511906.1:n.*302G>A | |
| ENST00000241600.10:c.413G>A MANE Select | ENSP00000241600.5:p.Arg138His | |
| ENST00000241600.9:c.413G>A | ENSP00000241600.5:p.Arg138His | |
| ENST00000371785.5:c.413G>A | ENSP00000360850.1:p.Arg138His | |
| ENST00000453385.1:c.455G>A | ENSP00000400082.1:p.Arg152His | |
| ENST00000472852.1:n.554G>A | ||
| ENST00000472946.1:n.164G>A | ||
| ENST00000485333.5:n.560G>A | ||
| ENST00000488610.5:n.623G>A | ||
| NM_016034.4:c.413G>A | NP_057118.1:p.Arg138His | |
| NR_051967.1:n.636G>A | ||
| NR_051968.1:n.691G>A | ||
| NR_051969.1:n.696G>A | ||
| NR_051970.1:n.638G>A | ||
| NR_121579.1:n.735C>T | ||
| XM_006717136.2:c.482G>A | XP_006717199.1:p.Arg161His | |
| XM_006717136.3:c.482G>A | XP_006717199.1:p.Arg161His | |
| NM_016034.5:c.413G>A MANE Select | NP_057118.1:p.Arg138His | |
| NM_001371401.1:c.413G>A | NP_001358330.1:p.Arg138His | |
| NR_051967.3:n.585G>A | ||
| NR_051968.2:n.640G>A | ||
| NR_051969.2:n.645G>A | ||
| NR_051970.2:n.587G>A |