Linked Data
dbSNP Id:
rs374891410
ExAC:
17:42452035 C / A
gnomAD v2:
17-42452035-C-A
gnomAD v3:
17-44374667-C-A
gnomAD v4:
17-44374667-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374667C>A , CM000679.2:g.44374667C>A | GRCh38 |
| NC_000017.10:g.42452035C>A , CM000679.1:g.42452035C>A | GRCh37 |
| NC_000017.9:g.39807561C>A | NCBI36 |
| NG_008331.1:g.19839G>T , LRG_479:g.19839G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2935G>T MANE Select | ENSP00000262407.5:p.Glu979Ter | |
| ENST00000648408.1:c.2366G>T | ||
| ENST00000262407.5:c.2935G>T | ENSP00000262407.5:p.Glu979Ter | |
| ENST00000587295.5:c.253+1166G>T | ||
| ENST00000588098.1:c.29G>T | ||
| ENST00000592462.5:n.2446G>T | ||
| NM_000419.3:c.2935G>T , LRG_479t1:c.2935G>T | NP_000410.2:p.Glu979Ter | |
| XM_011524749.1:c.2842-197G>T | XP_011523051.1:n.2842-197G>T | |
| XM_011524750.1:c.2935G>T | XP_011523052.1:p.Glu979Ter | |
| NM_000419.4:c.2935G>T | NP_000410.2:p.Glu979Ter | |
| NM_000419.5:c.2935G>T MANE Select | NP_000410.2:p.Glu979Ter |