Linked Data
dbSNP Id:
rs780528096
ExAC:
19:18710558 C / T
gnomAD v2:
19-18710558-C-T
gnomAD v3:
19-18599748-C-T
gnomAD v4:
19-18599748-C-T
COSMIC:
COSM1391703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599748C>T , CM000681.2:g.18599748C>T | GRCh38 |
| NC_000019.9:g.18710558C>T , CM000681.1:g.18710558C>T | GRCh37 |
| NC_000019.8:g.18571558C>T | NCBI36 |
| NG_013370.1:g.12103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.214G>A | ENSP00000506849.1:p.Glu72Lys | |
| ENST00000392386.8:c.214G>A MANE Select | ENSP00000376188.2:p.Glu72Lys | |
| ENST00000392386.7:c.214G>A | ENSP00000376188.2:p.Glu72Lys | |
| ENST00000593286.1:n.466G>A | ||
| NM_004750.4:c.214G>A | NP_004741.1:p.Glu72Lys | |
| XM_011528422.1:c.148G>A | XP_011526724.1:p.Glu50Lys | |
| XM_011528423.1:c.214G>A | XP_011526725.1:p.Glu72Lys | |
| XM_011528424.1:c.148G>A | XP_011526726.1:p.Glu50Lys | |
| XM_011528422.2:c.148G>A | XP_011526724.1:p.Glu50Lys | |
| XM_011528423.2:c.214G>A | XP_011526725.1:p.Glu72Lys | |
| XM_011528424.3:c.148G>A | XP_011526726.1:p.Glu50Lys | |
| NM_004750.5:c.214G>A MANE Select | NP_004741.1:p.Glu72Lys |