Linked Data
dbSNP Id:
rs1328351508
gnomAD v2:
20-6758924-A-G
gnomAD v3:
20-6778277-A-G
gnomAD v4:
20-6778277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778277A>G , CM000682.2:g.6778277A>G | GRCh38 |
| NC_000020.10:g.6758924A>G , CM000682.1:g.6758924A>G | GRCh37 |
| NC_000020.9:g.6706924A>G | NCBI36 |
| NG_023233.1:g.15180A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.379A>G MANE Select | ENSP00000368104.3:p.Lys127Glu | |
| ENST00000378827.4:c.379A>G | ENSP00000368104.3:p.Lys127Glu | |
| NM_001200.2:c.379A>G | NP_001191.1:p.Lys127Glu | |
| XM_011529323.1:c.-90A>G | XP_011527625.1:n.-90A>G | |
| NM_001200.3:c.379A>G | NP_001191.1:p.Lys127Glu | |
| NM_001200.4:c.379A>G MANE Select | NP_001191.1:p.Lys127Glu |