Linked Data
dbSNP Id:
rs587777779
gnomAD v2:
19-11537002-C-T
gnomAD v3:
19-11426182-C-T
gnomAD v4:
19-11426182-C-T
COSMIC:
COSM1390359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11426182C>T , CM000681.2:g.11426182C>T | GRCh38 |
| NC_000019.9:g.11537002C>T , CM000681.1:g.11537002C>T | GRCh37 |
| NC_000019.8:g.11398002C>T | NCBI36 |
| NG_041777.1:g.14601G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356392.9:c.925G>A MANE Select | ENSP00000348757.3:p.Glu309Lys | |
| ENST00000356392.8:c.925G>A | ENSP00000348757.3:p.Glu309Lys | |
| ENST00000586836.5:c.352G>A | ENSP00000467429.1:p.Glu118Lys | |
| ENST00000591179.5:c.745G>A | ENSP00000466800.1:p.Glu249Lys | |
| ENST00000591345.5:c.*844G>A | ENSP00000467313.1:n.*844G>A | |
| NM_001302453.1:c.763G>A | NP_001289382.1:p.Glu255Lys | |
| NM_001302454.1:c.745G>A | NP_001289383.1:p.Glu249Lys | |
| NM_145045.4:c.925G>A | NP_659482.3:p.Glu309Lys | |
| XM_017026241.1:c.904+21G>A | XP_016881730.1:n.904+21G>A | |
| NM_145045.5:c.925G>A MANE Select | NP_659482.3:p.Glu309Lys | |
| NM_001302454.2:c.745G>A | NP_001289383.1:p.Glu249Lys |