Linked Data
ClinVar Variation Id:
40079
dbSNP Id:
rs397514639
ExAC:
15:74472461 C / T
gnomAD v2:
15-74472461-C-T
gnomAD v3:
15-74180120-C-T
gnomAD v4:
15-74180120-C-T
PubMed:
PMID:19839040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74180120C>T , CM000677.2:g.74180120C>T | GRCh38 |
| NC_000015.9:g.74472461C>T , CM000677.1:g.74472461C>T | GRCh37 |
| NC_000015.8:g.72259514C>T | NCBI36 |
| NG_009207.1:g.33911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395105.9:c.1964G>A MANE Select | ENSP00000378537.4:p.Arg655His | |
| ENST00000323940.9:c.1964G>A | ENSP00000326085.5:p.Arg655His | |
| ENST00000395105.8:c.1964G>A | ENSP00000378537.4:p.Arg655His | |
| ENST00000416286.7:c.1940G>A | ENSP00000400403.3:p.Arg647His | |
| ENST00000423167.6:c.1937G>A | ENSP00000413012.2:p.Arg646His | |
| ENST00000449139.6:c.1964G>A | ENSP00000410221.2:p.Arg655His | |
| ENST00000535552.5:c.2075G>A | ENSP00000440238.1:p.Arg692His | |
| ENST00000545137.5:n.1673G>A | ||
| ENST00000563965.5:c.2081G>A | ENSP00000456609.1:p.Arg694His | |
| ENST00000574278.5:c.2009G>A | ENSP00000458827.1:p.Arg670His | |
| ENST00000574439.5:n.2236G>A | ||
| ENST00000616000.4:c.1964G>A | ENSP00000479112.1:p.Arg655His | |
| NM_001142617.1:c.1964G>A | NP_001136089.1:p.Arg655His | |
| NM_001142618.1:c.1964G>A | NP_001136090.1:p.Arg655His | |
| NM_001142619.1:c.1937G>A | NP_001136091.1:p.Arg646His | |
| NM_001199040.1:c.2075G>A | NP_001185969.1:p.Arg692His | |
| NM_001199041.1:c.2009G>A | NP_001185970.1:p.Arg670His | |
| NM_001199042.1:c.2081G>A | NP_001185971.1:p.Arg694His | |
| NM_022369.3:c.1964G>A | NP_071764.3:p.Arg655His | |
| XM_011521883.1:c.1964G>A | XP_011520185.1:p.Arg655His | |
| XM_011521884.1:c.1775G>A | XP_011520186.1:p.Arg592His | |
| XM_017022478.1:c.2012G>A | XP_016877967.1:p.Arg671His | |
| XM_017022479.1:c.1964G>A | XP_016877968.1:p.Arg655His | |
| XM_017022480.1:c.1775G>A | XP_016877969.1:p.Arg592His | |
| NM_022369.4:c.1964G>A MANE Select | NP_071764.3:p.Arg655His | |
| NM_001142617.2:c.1964G>A | NP_001136089.1:p.Arg655His | |
| NM_001142619.2:c.1937G>A | NP_001136091.1:p.Arg646His | |
| NM_001199042.2:c.2081G>A | NP_001185971.1:p.Arg694His | |
| NM_001142618.2:c.1964G>A | NP_001136090.1:p.Arg655His | |
| NM_001199040.2:c.2075G>A | NP_001185969.1:p.Arg692His | |
| NM_001199041.2:c.2009G>A | NP_001185970.1:p.Arg670His |