Linked Data
dbSNP Id:
rs768967879
ExAC:
8:126044541 C / T
gnomAD v2:
8-126044541-C-T
gnomAD v3:
8-125032299-C-T
gnomAD v4:
8-125032299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125032299C>T , CM000670.2:g.125032299C>T | GRCh38 |
| NC_000008.10:g.126044541C>T , CM000670.1:g.126044541C>T | GRCh37 |
| NC_000008.9:g.126113723C>T | NCBI36 |
| NG_012636.1:g.64521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.3277G>A MANE Select | ENSP00000318016.7:p.Glu1093Lys | |
| ENST00000318410.11:c.3277G>A | ENSP00000318016.7:p.Glu1093Lys | |
| ENST00000517845.5:c.2833G>A | ENSP00000429676.1:p.Glu945Lys | |
| ENST00000519042.2:n.416G>A | ||
| NM_014846.3:c.3277G>A | NP_055661.3:p.Glu1093Lys | |
| XM_005251120.2:c.2833G>A | XP_005251177.1:p.Glu945Lys | |
| NM_001330609.1:c.2833G>A | NP_001317538.1:p.Glu945Lys | |
| XM_017014113.2:c.3277G>A | XP_016869602.1:p.Glu1093Lys | |
| NM_014846.4:c.3277G>A MANE Select | NP_055661.3:p.Glu1093Lys | |
| NM_001330609.2:c.2833G>A | NP_001317538.1:p.Glu945Lys |