Linked Data
ClinVar Variation Id:
431430
dbSNP Id:
rs754786373
ExAC:
15:51763562 C / T
gnomAD v2:
15-51763562-C-T
gnomAD v3:
15-51471365-C-T
gnomAD v4:
15-51471365-C-T
PubMed:
PMID:27657680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51471365C>T , CM000677.2:g.51471365C>T | GRCh38 |
| NC_000015.9:g.51763562C>T , CM000677.1:g.51763562C>T | GRCh37 |
| NC_000015.8:g.49550854C>T | NCBI36 |
| NG_017155.1:g.156406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560891.6:c.7250G>A MANE Select | ENSP00000453267.2:p.Arg2417His | |
| ENST00000251076.9:c.7247G>A | ENSP00000251076.5:p.Arg2416His | |
| ENST00000449909.7:c.5339G>A | ENSP00000400855.3:p.Arg1780His | |
| ENST00000543779.6:c.7250G>A | ENSP00000441858.2:p.Arg2417His | |
| ENST00000560891.5:c.1624G>A | ||
| NM_001174116.1:c.7250G>A | NP_001167587.1:p.Arg2417His | |
| NM_001174117.1:c.5339G>A | NP_001167588.1:p.Arg1780His | |
| NM_015263.3:c.7247G>A | NP_056078.2:p.Arg2416His | |
| XM_005254255.1:c.7250G>A | XP_005254312.1:p.Arg2417His | |
| XM_005254256.1:c.7247G>A | XP_005254313.1:p.Arg2416His | |
| XR_243084.1:n.7538G>A | ||
| XR_243085.1:n.7538G>A | ||
| XR_931779.1:n.7538G>A | ||
| XR_931780.1:n.7538G>A | ||
| XR_931781.1:n.7538G>A | ||
| XM_017022034.1:c.7196G>A | XP_016877523.1:p.Arg2399His | |
| XR_001751173.1:n.7538G>A | ||
| XR_001751174.1:n.7538G>A | ||
| XR_001751175.1:n.7538G>A | ||
| XR_001751176.1:n.7538G>A | ||
| XR_001751177.1:n.7538G>A | ||
| XR_931779.2:n.7538G>A | ||
| XR_931780.2:n.7538G>A | ||
| XR_931781.2:n.7538G>A | ||
| NM_001174116.2:c.7250G>A | NP_001167587.1:p.Arg2417His | |
| NM_001174117.2:c.5339G>A | NP_001167588.1:p.Arg1780His | |
| NM_015263.4:c.7247G>A | NP_056078.2:p.Arg2416His | |
| NM_001174116.3:c.7250G>A | NP_001167587.1:p.Arg2417His | |
| NM_001174117.3:c.5339G>A | NP_001167588.1:p.Arg1780His | |
| NM_001378457.1:c.7250G>A MANE Select | NP_001365386.1:p.Arg2417His | |
| NM_001378458.1:c.7247G>A | NP_001365387.1:p.Arg2416His | |
| NM_001378459.1:c.7250G>A | NP_001365388.1:p.Arg2417His | |
| NM_001378460.1:c.5228G>A | NP_001365389.1:p.Arg1743His | |
| NM_001378461.1:c.7250G>A | NP_001365390.1:p.Arg2417His | |
| NM_001378462.1:c.7247G>A | NP_001365391.1:p.Arg2416His | |
| NM_001378463.1:c.7250G>A | NP_001365392.1:p.Arg2417His | |
| NM_001378464.1:c.7007G>A | NP_001365393.1:p.Arg2336His | |
| NM_015263.5:c.7247G>A | NP_056078.2:p.Arg2416His | |
| NR_165648.1:n.7473G>A | ||
| NR_165649.1:n.7476G>A |