Linked Data
ClinVar Variation Id:
246575
dbSNP Id:
rs377009047
ExAC:
19:40900147 C / T
gnomAD v2:
19-40900147-C-T
gnomAD v3:
19-40394240-C-T
gnomAD v4:
19-40394240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394240C>T , CM000681.2:g.40394240C>T | GRCh38 |
| NC_000019.9:g.40900147C>T , CM000681.1:g.40900147C>T | GRCh37 |
| NC_000019.8:g.45591987C>T | NCBI36 |
| NG_007979.1:g.24125G>A , LRG_265:g.24125G>A | |
| NG_051224.1:g.982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.4112G>A MANE Select | ENSP00000326018.6:p.Arg1371Gln | |
| ENST00000673881.1:c.3695G>A | ENSP00000501070.1:p.Arg1232Gln | |
| ENST00000674005.2:c.4397G>A | ENSP00000501261.1:p.Arg1466Gln | |
| ENST00000674773.1:c.3695G>A | ENSP00000502579.1:p.Arg1232Gln | |
| ENST00000675517.1:c.3987G>A | ||
| ENST00000676076.1:c.3973G>A | ||
| ENST00000676260.1:c.4074G>A | ||
| ENST00000676316.1:c.3999G>A | ||
| ENST00000291825.11:c.*4317G>A | ENSP00000291825.6:n.*4317G>A | |
| ENST00000324001.7:c.4112G>A | ENSP00000326018.6:p.Arg1371Gln | |
| NM_020956.2:c.*4317G>A , LRG_265t1:c.*4317G>A | NP_066007.1:n.*4317G>A | |
| NM_181882.2:c.4112G>A , LRG_265t2:c.4112G>A | NP_870998.2:p.Arg1371Gln | |
| XM_011527171.1:c.4112G>A | XP_011525473.1:p.Arg1371Gln | |
| XM_011527171.2:c.4112G>A | XP_011525473.1:p.Arg1371Gln | |
| XM_017027046.1:c.4010G>A | XP_016882535.1:p.Arg1337Gln | |
| XM_017027047.1:c.4010G>A | XP_016882536.1:p.Arg1337Gln | |
| NM_181882.3:c.4112G>A MANE Select | NP_870998.2:p.Arg1371Gln |