Linked Data
ClinVar Variation Id:
225393
dbSNP Id:
rs74475415
gnomAD v2:
17-42453691-T-G
gnomAD v4:
17-44376323-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44376323T>G , CM000679.2:g.44376323T>G | GRCh38 |
| NC_000017.10:g.42453691T>G , CM000679.1:g.42453691T>G | GRCh37 |
| NC_000017.9:g.39809217T>G | NCBI36 |
| NG_008331.1:g.18183A>C , LRG_479:g.18183A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2333A>C MANE Select | ENSP00000262407.5:p.Gln778Pro | |
| ENST00000648408.1:c.1764A>C | ||
| ENST00000262407.5:c.2333A>C | ENSP00000262407.5:p.Gln778Pro | |
| ENST00000592462.5:n.1128A>C | ||
| NM_000419.3:c.2333A>C , LRG_479t1:c.2333A>C | NP_000410.2:p.Gln778Pro | |
| XM_011524749.1:c.2333A>C | XP_011523051.1:p.Gln778Pro | |
| XM_011524750.1:c.2333A>C | XP_011523052.1:p.Gln778Pro | |
| NM_000419.4:c.2333A>C | NP_000410.2:p.Gln778Pro | |
| NM_000419.5:c.2333A>C MANE Select | NP_000410.2:p.Gln778Pro |