Linked Data
dbSNP Id:
rs779360535
ExAC:
1:115222244 C / T
gnomAD v2:
1-115222244-C-T
gnomAD v4:
1-114679623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679623C>T , CM000663.2:g.114679623C>T | GRCh38 |
| NC_000001.10:g.115222244C>T , CM000663.1:g.115222244C>T | GRCh37 |
| NC_000001.9:g.115023767C>T | NCBI36 |
| NG_008012.1:g.20933G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.841G>A | ENSP00000358551.4:p.Glu281Lys | |
| ENST00000520113.7:c.853G>A MANE Select | ENSP00000430075.3:p.Glu285Lys | |
| ENST00000637080.1:c.636G>A | ENSP00000489753.1:n.636G>A | |
| ENST00000639077.1:n.518G>A | ||
| ENST00000369538.3:c.940G>A | ENSP00000358551.3:p.Glu314Lys | |
| ENST00000520113.6:c.952G>A | ENSP00000430075.2:p.Glu318Lys | |
| NM_000036.2:c.952G>A | NP_000027.2:p.Glu318Lys | |
| NM_001172626.1:c.940G>A | NP_001166097.1:p.Glu314Lys | |
| NM_000036.3:c.853G>A MANE Select | NP_000027.3:p.Glu285Lys | |
| NM_001172626.2:c.841G>A | NP_001166097.2:p.Glu281Lys |