Linked Data
dbSNP Id:
rs757155110
ExAC:
5:148406233 C / T
gnomAD v2:
5-148406233-C-T
gnomAD v4:
5-149026670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026670C>T , CM000667.2:g.149026670C>T | GRCh38 |
| NC_000005.9:g.148406233C>T , CM000667.1:g.148406233C>T | GRCh37 |
| NC_000005.8:g.148386426C>T | NCBI36 |
| NG_007947.2:g.41505G>A , LRG_269:g.41505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2851G>A | ||
| ENST00000515425.6:c.2955G>A MANE Select | ENSP00000423660.1:p.Glu985= | |
| ENST00000675793.1:c.*2239G>A | ENSP00000502039.1:n.*2239G>A | |
| ENST00000676056.1:c.*2465G>A | ENSP00000501827.1:n.*2465G>A | |
| ENST00000323829.9:c.*2343G>A | ENSP00000313025.5:n.*2343G>A | |
| ENST00000504517.5:c.2485G>A | ENSP00000421779.1:n.2485G>A | |
| ENST00000504690.5:c.2955G>A | ENSP00000425627.1:p.Glu985= | |
| ENST00000510779.1:c.2005G>A | ||
| ENST00000511307.5:c.*2842G>A | ENSP00000421420.1:n.*2842G>A | |
| ENST00000512049.5:c.2934G>A | ENSP00000421860.1:p.Glu978= | |
| ENST00000513604.5:c.*2450G>A | ENSP00000423111.1:n.*2450G>A | |
| ENST00000515425.5:c.2955G>A | ENSP00000423660.1:p.Glu985= | |
| NM_024577.3:c.2955G>A , LRG_269t1:c.2955G>A | NP_078853.2:p.Glu985= | |
| NM_024577.4:c.2955G>A MANE Select | NP_078853.2:p.Glu985= |