Linked Data
ClinVar Variation Id:
2177249
ClinVar RCV Id:
RCV002595153
dbSNP Id:
rs773819905
ExAC:
17:42449769 C / T
gnomAD v2:
17-42449769-C-T
gnomAD v3:
17-44372401-C-T
gnomAD v4:
17-44372401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372401C>T , CM000679.2:g.44372401C>T | GRCh38 |
| NC_000017.10:g.42449769C>T , CM000679.1:g.42449769C>T | GRCh37 |
| NC_000017.9:g.39805295C>T | NCBI36 |
| NG_008331.1:g.22105G>A , LRG_479:g.22105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3083G>A MANE Select | ENSP00000262407.5:p.Arg1028Gln | |
| ENST00000648408.1:c.2397G>A | ||
| ENST00000262407.5:c.3083G>A | ENSP00000262407.5:p.Arg1028Gln | |
| ENST00000587295.5:c.276G>A | ||
| ENST00000588098.1:c.60G>A | ||
| NM_000419.3:c.3083G>A , LRG_479t1:c.3083G>A | NP_000410.2:p.Arg1028Gln | |
| XM_011524749.1:c.2981G>A | XP_011523051.1:p.Arg994Gln | |
| XM_011524750.1:c.2966G>A | XP_011523052.1:p.Arg989Gln | |
| NM_000419.4:c.3083G>A | NP_000410.2:p.Arg1028Gln | |
| NM_000419.5:c.3083G>A MANE Select | NP_000410.2:p.Arg1028Gln |