Linked Data
dbSNP Id:
rs978092801
gnomAD v2:
1-115220599-C-T
gnomAD v3:
1-114677978-C-T
gnomAD v4:
1-114677978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677978C>T , CM000663.2:g.114677978C>T | GRCh38 |
| NC_000001.10:g.115220599C>T , CM000663.1:g.115220599C>T | GRCh37 |
| NC_000001.9:g.115022122C>T | NCBI36 |
| NG_008012.1:g.22578G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1144G>A | ENSP00000358551.4:p.Glu382Lys | |
| ENST00000520113.7:c.1156G>A MANE Select | ENSP00000430075.3:p.Glu386Lys | |
| ENST00000637080.1:c.939G>A | ENSP00000489753.1:n.939G>A | |
| ENST00000639077.1:n.821G>A | ||
| ENST00000369538.3:c.1243G>A | ENSP00000358551.3:p.Glu415Lys | |
| ENST00000520113.6:c.1255G>A | ENSP00000430075.2:p.Glu419Lys | |
| NM_000036.2:c.1255G>A | NP_000027.2:p.Glu419Lys | |
| NM_001172626.1:c.1243G>A | NP_001166097.1:p.Glu415Lys | |
| NM_000036.3:c.1156G>A MANE Select | NP_000027.3:p.Glu386Lys | |
| NM_001172626.2:c.1144G>A | NP_001166097.2:p.Glu382Lys |