Linked Data
ClinVar Variation Id:
16190
dbSNP Id:
rs121913125
ExAC:
15:26825498 C / T
gnomAD v2:
15-26825498-C-T
gnomAD v3:
15-26580351-C-T
gnomAD v4:
15-26580351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26580351C>T , CM000677.2:g.26580351C>T | GRCh38 |
| NC_000015.9:g.26825498C>T , CM000677.1:g.26825498C>T | GRCh37 |
| NC_000015.8:g.24376591C>T | NCBI36 |
| NG_012836.1:g.198430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.650G>A | ENSP00000299267.4:p.Arg217His | |
| ENST00000311550.10:c.650G>A MANE Select | ENSP00000308725.5:p.Arg217His | |
| ENST00000635832.1:n.693G>A | ||
| ENST00000635994.1:c.333G>A | ||
| ENST00000636466.1:c.395G>A | ENSP00000489768.1:p.Arg132His | |
| ENST00000638099.1:c.551G>A | ENSP00000490678.1:p.Arg184His | |
| ENST00000299267.8:c.650G>A | ENSP00000299267.4:p.Arg217His | |
| ENST00000311550.9:c.650G>A | ENSP00000308725.5:p.Arg217His | |
| ENST00000400188.7:c.437G>A | ENSP00000383049.3:p.Arg146His | |
| ENST00000541819.6:c.818G>A | ENSP00000442408.2:p.Arg273His | |
| ENST00000545868.4:c.395G>A | ENSP00000439169.1:p.Arg132His | |
| ENST00000554556.5:c.*111G>A | ENSP00000451077.1:n.*111G>A | |
| ENST00000555094.5:n.562G>A | ||
| ENST00000555632.5:c.*482G>A | ENSP00000452041.1:n.*482G>A | |
| ENST00000557765.1:n.321G>A | ||
| ENST00000622697.4:c.395G>A | ENSP00000481004.1:p.Arg132His | |
| ENST00000628124.2:c.395G>A | ENSP00000486819.1:p.Arg132His | |
| NM_000814.5:c.650G>A | NP_000805.1:p.Arg217His | |
| NM_001191320.1:c.395G>A | NP_001178249.1:p.Arg132His | |
| NM_001191321.2:c.437G>A | NP_001178250.1:p.Arg146His | |
| NM_001278631.1:c.395G>A | NP_001265560.1:p.Arg132His | |
| NM_021912.4:c.650G>A | NP_068712.1:p.Arg217His | |
| XM_011521428.1:c.473G>A | XP_011519730.1:p.Arg158His | |
| XM_011521428.3:c.473G>A | XP_011519730.1:p.Arg158His | |
| NM_000814.6:c.650G>A MANE Select | NP_000805.1:p.Arg217His | |
| NM_001191321.3:c.437G>A | NP_001178250.1:p.Arg146His | |
| NM_021912.5:c.650G>A | NP_068712.1:p.Arg217His | |
| NM_001191320.2:c.395G>A | NP_001178249.1:p.Arg132His | |
| NM_001278631.2:c.395G>A | NP_001265560.1:p.Arg132His |