Linked Data
ClinVar Variation Id:
381747
dbSNP Id:
rs78657866
gnomAD v2:
17-42451838-C-T
gnomAD v3:
17-44374470-C-T
gnomAD v4:
17-44374470-C-T
ERepo:
CA16608466/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374470C>T , CM000679.2:g.44374470C>T | GRCh38 |
| NC_000017.10:g.42451838C>T , CM000679.1:g.42451838C>T | GRCh37 |
| NC_000017.9:g.39807364C>T | NCBI36 |
| NG_008331.1:g.20036G>A , LRG_479:g.20036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2944G>A MANE Select | ENSP00000262407.5:p.Val982Met | |
| ENST00000648408.1:c.2374+189G>A | ||
| ENST00000262407.5:c.2944G>A | ENSP00000262407.5:p.Val982Met | |
| ENST00000587295.5:c.253+1363G>A | ||
| ENST00000588098.1:c.37+189G>A | ||
| ENST00000592462.5:n.2643G>A | ||
| NM_000419.3:c.2944G>A , LRG_479t1:c.2944G>A | NP_000410.2:p.Val982Met | |
| XM_011524749.1:c.2842G>A | XP_011523051.1:p.Val948Met | |
| XM_011524750.1:c.2943+189G>A | XP_011523052.1:n.2943+189G>A | |
| NM_000419.4:c.2944G>A | NP_000410.2:p.Val982Met | |
| NM_000419.5:c.2944G>A MANE Select | NP_000410.2:p.Val982Met |