Linked Data
dbSNP Id:
rs753610916
ExAC:
10:3824277 C / T
gnomAD v2:
10-3824277-C-T
gnomAD v4:
10-3782085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3782085C>T , CM000672.2:g.3782085C>T | GRCh38 |
| NC_000010.10:g.3824277C>T , CM000672.1:g.3824277C>T | GRCh37 |
| NC_000010.9:g.3814277C>T | NCBI36 |
| NG_012277.1:g.8197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.232G>A MANE Select | ENSP00000419923.1:p.Glu78Lys | |
| ENST00000380946.3:n.467G>A | ||
| ENST00000469435.1:c.232G>A | ENSP00000419079.1:p.Glu78Lys | |
| ENST00000497571.5:c.232G>A | ENSP00000419923.1:p.Glu78Lys | |
| ENST00000542957.1:c.232G>A | ENSP00000445301.1:p.Glu78Lys | |
| NM_001160124.1:c.232G>A | NP_001153596.1:p.Glu78Lys | |
| NM_001160125.1:c.232G>A | NP_001153597.1:p.Glu78Lys | |
| NM_001300.5:c.232G>A | NP_001291.3:p.Glu78Lys | |
| NR_027653.1:n.499G>A | ||
| NM_001300.6:c.232G>A MANE Select | NP_001291.3:p.Glu78Lys | |
| NM_001160124.2:c.232G>A | NP_001153596.1:p.Glu78Lys | |
| NR_027653.2:n.427G>A | ||
| NM_001160125.2:c.232G>A | NP_001153597.1:p.Glu78Lys |