Linked Data
ClinVar Variation Id:
13198
dbSNP Id:
rs121918378
ExAC:
17:79892247 C / T
gnomAD v2:
17-79892247-C-T
gnomAD v3:
17-81934371-C-T
gnomAD v4:
17-81934371-C-T
PubMed:
PMID:19648921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81934371C>T , CM000679.2:g.81934371C>T | GRCh38 |
| NC_000017.10:g.79892247C>T , CM000679.1:g.79892247C>T | GRCh37 |
| NC_000017.9:g.77485538C>T | NCBI36 |
| NG_023032.1:g.7722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329875.13:c.752G>A MANE Select | ENSP00000328858.8:p.Arg251His | |
| ENST00000329875.12:c.752G>A | ENSP00000328858.8:p.Arg251His | |
| ENST00000337943.9:c.752G>A | ENSP00000336579.5:p.Arg251His | |
| ENST00000402252.6:c.833G>A | ENSP00000384949.2:p.Arg278His | |
| ENST00000403172.8:c.659G>A | ENSP00000385483.4:p.Arg220His | |
| ENST00000405481.8:c.752G>A | ENSP00000386002.4:p.Arg251His | |
| ENST00000577756.5:c.633+282G>A | ENSP00000463352.1:n.633+282G>A | |
| ENST00000582198.5:c.662G>A | ENSP00000463226.1:p.Arg221His | |
| ENST00000584848.5:c.501+555G>A | ENSP00000463342.1:n.501+555G>A | |
| ENST00000619204.4:c.752G>A | ENSP00000479793.1:p.Arg251His | |
| ENST00000629768.2:c.633+282G>A | ENSP00000485679.1:n.633+282G>A | |
| NM_001282279.1:c.659G>A | NP_001269208.1:p.Arg220His | |
| NM_001282280.1:c.752G>A | NP_001269209.1:p.Arg251His | |
| NM_001282281.1:c.833G>A | NP_001269210.1:p.Arg278His | |
| NM_006907.3:c.752G>A | NP_008838.2:p.Arg251His | |
| NM_153824.2:c.752G>A | NP_722546.1:p.Arg251His | |
| XM_005256381.1:c.752G>A | XP_005256438.1:p.Arg251His | |
| XM_011523583.1:c.752G>A | XP_011521885.1:p.Arg251His | |
| XM_011523584.1:c.752G>A | XP_011521886.1:p.Arg251His | |
| XM_011523585.1:c.714+282G>A | XP_011521887.1:n.714+282G>A | |
| NM_001330523.1:c.633+282G>A | NP_001317452.1:n.633+282G>A | |
| XM_005256381.2:c.752G>A | XP_005256438.1:p.Arg251His | |
| XM_011523583.2:c.752G>A | XP_011521885.1:p.Arg251His | |
| XM_011523584.3:c.752G>A | XP_011521886.1:p.Arg251His | |
| XM_011523585.2:c.714+282G>A | XP_011521887.1:n.714+282G>A | |
| XM_024450849.1:c.752G>A | XP_024306617.1:p.Arg251His | |
| NM_001282279.2:c.659G>A | NP_001269208.1:p.Arg220His | |
| NM_001282281.2:c.833G>A | NP_001269210.1:p.Arg278His | |
| NM_006907.4:c.752G>A MANE Select | NP_008838.2:p.Arg251His | |
| NM_153824.3:c.752G>A | NP_722546.1:p.Arg251His | |
| NM_001282280.2:c.752G>A | NP_001269209.1:p.Arg251His | |
| NM_001330523.2:c.633+282G>A | NP_001317452.1:n.633+282G>A |