Linked Data
ClinVar Variation Id:
297940
dbSNP Id:
rs761000380
ExAC:
1:6528353 C / T
gnomAD v2:
1-6528353-C-T
gnomAD v3:
1-6468293-C-T
gnomAD v4:
1-6468293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6468293C>T , CM000663.2:g.6468293C>T | GRCh38 |
| NC_000001.10:g.6528353C>T , CM000663.1:g.6528353C>T | GRCh37 |
| NC_000001.9:g.6450940C>T | NCBI36 |
| NG_007978.1:g.56717G>A , LRG_262:g.56717G>A | |
| NG_029910.1:g.2903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2543G>A | ENSP00000344570.5:p.Arg848Gln | |
| ENST00000377728.8:c.2543G>A MANE Select | ENSP00000366957.3:p.Arg848Gln | |
| ENST00000377740.5:c.2543G>A | ENSP00000366969.4:p.Arg848Gln | |
| ENST00000377748.6:c.2717G>A | ENSP00000366977.2:p.Arg906Gln | |
| ENST00000400913.6:c.2543G>A | ENSP00000383704.1:p.Arg848Gln | |
| ENST00000400915.8:c.2654G>A | ENSP00000383706.4:p.Arg885Gln | |
| ENST00000489097.6:n.3019G>A | ||
| ENST00000535355.6:c.2750G>A | ENSP00000441445.1:p.Arg917Gln | |
| ENST00000537245.6:c.2654G>A | ENSP00000439625.2:p.Arg885Gln | |
| ENST00000673471.2:c.2840G>A | ENSP00000500749.1:p.Arg947Gln | |
| ENST00000674790.1:c.*2755G>A | ENSP00000502815.1:n.*2755G>A | |
| ENST00000675123.1:c.2250-400G>A | ENSP00000502132.1:n.2250-400G>A | |
| ENST00000675548.1:c.*2371G>A | ENSP00000502684.1:n.*2371G>A | |
| ENST00000675694.1:c.2543G>A | ENSP00000501925.1:p.Arg848Gln | |
| ENST00000675976.1:c.416G>A | ENSP00000501611.1:p.Arg139Gln | |
| ENST00000340850.9:c.2543G>A | ENSP00000344570.5:p.Arg848Gln | |
| ENST00000377725.5:c.2543G>A | ENSP00000366954.1:p.Arg848Gln | |
| ENST00000377728.7:c.2543G>A | ENSP00000366957.3:p.Arg848Gln | |
| ENST00000377732.5:c.2654G>A | ENSP00000366961.1:p.Arg885Gln | |
| ENST00000377740.4:c.2481-400G>A | ENSP00000366969.3:n.2481-400G>A | |
| ENST00000377748.5:c.2774G>A | ENSP00000366977.1:p.Arg925Gln | |
| ENST00000400913.5:c.2543G>A | ENSP00000383704.1:p.Arg848Gln | |
| ENST00000400915.7:c.2711G>A | ENSP00000383706.3:p.Arg904Gln | |
| ENST00000487949.4:n.1745G>A | ||
| ENST00000489097.5:n.3019G>A | ||
| ENST00000535355.5:c.2750G>A | ENSP00000441445.1:p.Arg917Gln | |
| ENST00000537245.5:c.2780G>A | ENSP00000439625.1:p.Arg927Gln | |
| NM_001042663.1:c.2711G>A | NP_001036128.1:p.Arg904Gln | |
| NM_001042664.1:c.2543G>A | NP_001036129.1:p.Arg848Gln | |
| NM_001042665.1:c.2543G>A | NP_001036130.1:p.Arg848Gln | |
| NM_001265592.1:c.2780G>A | NP_001252521.1:p.Arg927Gln | |
| NM_001265593.1:c.2750G>A | NP_001252522.1:p.Arg917Gln | |
| NM_001265594.1:c.2543G>A | NP_001252523.1:p.Arg848Gln | |
| NM_020631.4:c.2543G>A | NP_065682.2:p.Arg848Gln | |
| NM_198681.3:c.2774G>A | NP_941374.2:p.Arg925Gln | |
| NM_001042663.2:c.2711G>A | NP_001036128.1:p.Arg904Gln | |
| NM_001265594.2:c.2543G>A | NP_001252523.1:p.Arg848Gln | |
| NM_020631.5:c.2543G>A | NP_065682.2:p.Arg848Gln | |
| NM_001042663.3:c.2654G>A | NP_001036128.2:p.Arg885Gln | |
| NM_001265592.2:c.2654G>A | NP_001252521.2:p.Arg885Gln | |
| NM_020631.6:c.2543G>A MANE Select | NP_065682.2:p.Arg848Gln | |
| NM_198681.4:c.2543G>A | NP_941374.3:p.Arg848Gln |