Linked Data
dbSNP Id:
rs1177633678
gnomAD v2:
4-120085434-C-G
gnomAD v3:
4-119164279-C-G
gnomAD v4:
4-119164279-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119164279C>G , CM000666.2:g.119164279C>G | GRCh38 |
| NC_000004.11:g.120085434C>G , CM000666.1:g.120085434C>G | GRCh37 |
| NC_000004.10:g.120304882C>G | NCBI36 |
| NG_029747.1:g.33496C>G , LRG_396:g.33496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.445C>G MANE Select | ENSP00000306997.6:p.Gln149Glu | |
| ENST00000307128.5:c.445C>G | ENSP00000306997.5:p.Gln149Glu | |
| NM_016599.4:c.445C>G , LRG_396t1:c.445C>G | NP_057683.1:p.Gln149Glu | |
| XM_006714234.2:c.445C>G | XP_006714297.1:p.Gln149Glu | |
| XM_006714234.4:c.445C>G | XP_006714297.1:p.Gln149Glu | |
| NM_016599.5:c.445C>G MANE Select | NP_057683.1:p.Gln149Glu |