Linked Data
ClinVar Variation Id:
204237
dbSNP Id:
rs180177323
ExAC:
9:37436697 G / A
gnomAD v2:
9-37436697-G-A
gnomAD v3:
9-37436700-G-A
gnomAD v4:
9-37436700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436700G>A , CM000671.2:g.37436700G>A | GRCh38 |
| NC_000009.11:g.37436697G>A , CM000671.1:g.37436697G>A | GRCh37 |
| NC_000009.10:g.37426697G>A | NCBI36 |
| NG_008135.1:g.18991G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.905G>A MANE Select | ENSP00000313432.6:p.Arg302His | |
| ENST00000318158.10:c.905G>A | ENSP00000313432.6:p.Arg302His | |
| ENST00000460882.5:n.932G>A | ||
| ENST00000480596.5:n.1606G>A | ||
| ENST00000494290.1:c.*52-181G>A | ENSP00000432021.1:n.*52-181G>A | |
| ENST00000497693.1:n.4473G>A | ||
| NM_012203.1:c.905G>A | NP_036335.1:p.Arg302His | |
| XM_005251631.1:c.584G>A | XP_005251688.1:p.Arg195His | |
| XM_011518073.1:c.503G>A | XP_011516375.1:p.Arg168His | |
| XM_017015320.2:c.946-711G>A | XP_016870809.1:n.946-711G>A | |
| XM_017015321.2:c.866-711G>A | XP_016870810.1:n.866-711G>A | |
| XM_017015323.2:c.544-711G>A | XP_016870812.1:n.544-711G>A | |
| XM_024447716.1:c.1219-711G>A | XP_024303484.1:n.1219-711G>A | |
| XM_024447717.1:c.1139-711G>A | XP_024303485.1:n.1139-711G>A | |
| XR_002956828.1:n.1234-711G>A | ||
| XR_002956829.1:n.1154-711G>A | ||
| XR_002956830.1:n.2325G>A | ||
| XR_002956831.1:n.2000G>A | ||
| XR_002956832.1:n.1324G>A | ||
| NM_012203.2:c.905G>A MANE Select | NP_036335.1:p.Arg302His |