Linked Data
dbSNP Id:
rs1809695797
gnomAD v3:
8-98157837-G-A
gnomAD v4:
8-98157837-G-A
COSMIC:
COSM3902351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157837G>A , CM000670.2:g.98157837G>A | GRCh38 |
| NC_000008.10:g.99170065G>A , CM000670.1:g.99170065G>A | GRCh37 |
| NC_000008.9:g.99239241G>A | NCBI36 |
| NG_052869.1:g.45545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2641G>A MANE Select | ENSP00000385787.2:p.Glu881Lys | |
| ENST00000349693.3:c.2641G>A | ENSP00000339529.3:p.Glu881Lys | |
| ENST00000401707.6:c.2641G>A | ENSP00000385787.2:p.Glu881Lys | |
| NM_001145860.1:c.2641G>A | NP_001139332.1:p.Glu881Lys | |
| NM_001145861.1:c.2641G>A | NP_001139333.1:p.Glu881Lys | |
| NM_015029.2:c.2641G>A | NP_055844.2:p.Glu881Lys | |
| NM_001145860.2:c.2641G>A MANE Select | NP_001139332.1:p.Glu881Lys | |
| NM_001145861.2:c.2641G>A | NP_001139333.1:p.Glu881Lys | |
| NM_015029.3:c.2641G>A | NP_055844.2:p.Glu881Lys |