Linked Data
ClinVar Variation Id:
953019
dbSNP Id:
rs79657230
ExAC:
17:42452041 G / A
gnomAD v2:
17-42452041-G-A
gnomAD v4:
17-44374673-G-A
ERepo:
CA8602528/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374673G>A , CM000679.2:g.44374673G>A | GRCh38 |
| NC_000017.10:g.42452041G>A , CM000679.1:g.42452041G>A | GRCh37 |
| NC_000017.9:g.39807567G>A | NCBI36 |
| NG_008331.1:g.19833C>T , LRG_479:g.19833C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2929C>T MANE Select | ENSP00000262407.5:p.Arg977Ter | |
| ENST00000648408.1:c.2360C>T | ||
| ENST00000262407.5:c.2929C>T | ENSP00000262407.5:p.Arg977Ter | |
| ENST00000587295.5:c.253+1160C>T | ||
| ENST00000588098.1:c.23C>T | ||
| ENST00000592462.5:n.2440C>T | ||
| NM_000419.3:c.2929C>T , LRG_479t1:c.2929C>T | NP_000410.2:p.Arg977Ter | |
| XM_011524749.1:c.2842-203C>T | XP_011523051.1:n.2842-203C>T | |
| XM_011524750.1:c.2929C>T | XP_011523052.1:p.Arg977Ter | |
| NM_000419.4:c.2929C>T | NP_000410.2:p.Arg977Ter | |
| NM_000419.5:c.2929C>T MANE Select | NP_000410.2:p.Arg977Ter |