Linked Data
ClinVar Variation Id:
540290
ClinVar RCV Id:
RCV000650281
dbSNP Id:
rs767497993
ExAC:
8:38099780 G / A
gnomAD v2:
8-38099780-G-A
gnomAD v3:
8-38242262-G-A
gnomAD v4:
8-38242262-G-A
COSMIC:
COSM1569058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38242262G>A , CM000670.2:g.38242262G>A | GRCh38 |
| NC_000008.10:g.38099780G>A , CM000670.1:g.38099780G>A | GRCh37 |
| NC_000008.9:g.38218937G>A | NCBI36 |
| NG_033875.1:g.15772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.725G>A MANE Select | ENSP00000380352.2:p.Arg242His | |
| ENST00000397166.6:c.725G>A | ENSP00000380352.2:p.Arg242His | |
| ENST00000520272.6:c.725G>A | ENSP00000429932.2:p.Arg242His | |
| ENST00000527415.5:c.*85G>A | ENSP00000432024.1:n.*85G>A | |
| ENST00000528888.5:n.298G>A | ||
| ENST00000531344.1:n.35G>A | ||
| ENST00000532106.1:c.103G>A | ||
| ENST00000532222.5:c.635G>A | ENSP00000433578.1:p.Arg212His | |
| NM_001164232.1:c.725G>A | NP_001157704.1:p.Arg242His | |
| NM_015214.2:c.725G>A | NP_056029.2:p.Arg242His | |
| XM_005273454.1:c.725G>A | XP_005273511.1:p.Arg242His | |
| XM_005273455.2:c.725G>A | XP_005273512.1:p.Arg242His | |
| XM_005273456.2:c.635G>A | XP_005273513.1:p.Arg212His | |
| XM_011544455.1:c.725G>A | XP_011542757.1:p.Arg242His | |
| XM_011544456.1:c.725G>A | XP_011542758.1:p.Arg242His | |
| XR_247123.1:n.1250G>A | ||
| XR_949383.1:n.1250G>A | ||
| XR_949384.1:n.1250G>A | ||
| XR_949385.1:n.1250G>A | ||
| XR_949386.1:n.1250G>A | ||
| XR_949387.1:n.1250G>A | ||
| NM_001362911.1:c.725G>A | NP_001349840.1:p.Arg242His | |
| NM_001362912.1:c.725G>A | NP_001349841.1:p.Arg242His | |
| NM_001362913.1:c.635G>A | NP_001349842.1:p.Arg212His | |
| NM_001362914.1:c.725G>A | NP_001349843.1:p.Arg242His | |
| NR_156416.1:n.1102G>A | ||
| NR_156417.1:n.1102G>A | ||
| XM_011544456.2:c.725G>A | XP_011542758.1:p.Arg242His | |
| XM_017013255.2:c.-351G>A | XP_016868744.1:n.-351G>A | |
| XR_001745504.2:n.1008G>A | ||
| XR_001745506.2:n.1008G>A | ||
| NM_001362911.2:c.725G>A | NP_001349840.1:p.Arg242His | |
| NM_001362912.2:c.725G>A | NP_001349841.1:p.Arg242His | |
| NM_015214.3:c.725G>A MANE Select | NP_056029.2:p.Arg242His | |
| NR_156417.2:n.1008G>A | ||
| NM_001164232.2:c.725G>A | NP_001157704.1:p.Arg242His | |
| NM_001362913.2:c.635G>A | NP_001349842.1:p.Arg212His | |
| NM_001362914.2:c.725G>A | NP_001349843.1:p.Arg242His | |
| NR_156416.2:n.1008G>A |