Linked Data
ClinVar Variation Id:
203580
dbSNP Id:
rs112406105
ExAC:
17:7126471 G / A
gnomAD v2:
17-7126471-G-A
gnomAD v3:
17-7223152-G-A
gnomAD v4:
17-7223152-G-A
PubMed:
PMID:26385305
ERepo:
CA312265/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223152G>A , CM000679.2:g.7223152G>A | GRCh38 |
| NC_000017.10:g.7126471G>A , CM000679.1:g.7126471G>A | GRCh37 |
| NC_000017.9:g.7067195G>A | NCBI36 |
| NG_007975.1:g.8319G>A | |
| NG_008391.2:g.1899C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1097G>A MANE Select | ENSP00000349297.5:p.Arg366His | |
| ENST00000322910.9:c.*1052G>A | ENSP00000325395.5:n.*1052G>A | |
| ENST00000350303.9:c.1031G>A | ENSP00000344152.5:p.Arg344His | |
| ENST00000356839.9:c.1097G>A | ENSP00000349297.5:p.Arg366His | |
| ENST00000543245.6:c.1166G>A | ENSP00000438689.2:p.Arg389His | |
| ENST00000578579.2:n.46G>A | ||
| ENST00000578824.5:n.513G>A | ||
| ENST00000579425.5:n.121G>A | ||
| ENST00000582379.1:n.748G>A | ||
| ENST00000583858.5:c.126G>A | ||
| ENST00000585203.6:n.305G>A | ||
| NM_000018.3:c.1097G>A | NP_000009.1:p.Arg366His | |
| NM_001033859.2:c.1031G>A | NP_001029031.1:p.Arg344His | |
| NM_001270447.1:c.1166G>A | NP_001257376.1:p.Arg389His | |
| NM_001270448.1:c.869G>A | NP_001257377.1:p.Arg290His | |
| XM_006721516.2:c.1097G>A | XP_006721579.2:p.Arg366His | |
| XM_011523829.1:c.1097G>A | XP_011522131.1:p.Arg366His | |
| XM_011523830.1:c.1097G>A | XP_011522132.1:p.Arg366His | |
| XR_934021.1:n.1204G>A | ||
| XR_934022.1:n.1204G>A | ||
| XR_934023.1:n.1204G>A | ||
| XM_006721516.3:c.1097G>A | XP_006721579.2:p.Arg366His | |
| XM_011523829.2:c.1097G>A | XP_011522131.1:p.Arg366His | |
| XM_011523830.2:c.1097G>A | XP_011522132.1:p.Arg366His | |
| XM_024450741.1:c.1097G>A | XP_024306509.1:p.Arg366His | |
| XR_934021.2:n.1156G>A | ||
| XR_934022.2:n.1156G>A | ||
| XR_934023.2:n.1156G>A | ||
| NM_000018.4:c.1097G>A MANE Select | NP_000009.1:p.Arg366His | |
| NM_001033859.3:c.1031G>A | NP_001029031.1:p.Arg344His | |
| NM_001270447.2:c.1166G>A | NP_001257376.1:p.Arg389His | |
| NM_001270448.2:c.869G>A | NP_001257377.1:p.Arg290His |