Linked Data
dbSNP Id:
rs1393084089
gnomAD v2:
2-84652562-G-C
gnomAD v3:
2-84425438-G-C
gnomAD v4:
2-84425438-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425438G>C , CM000664.2:g.84425438G>C | GRCh38 |
| NC_000002.11:g.84652562G>C , CM000664.1:g.84652562G>C | GRCh37 |
| NC_000002.10:g.84506073G>C | NCBI36 |
| NG_016755.1:g.39025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.991C>G MANE Select | ENSP00000377446.2:p.Gln331Glu | |
| ENST00000651342.1:c.*431C>G | ENSP00000498471.1:n.*431C>G | |
| ENST00000393868.6:c.991C>G | ENSP00000377446.2:p.Gln331Glu | |
| ENST00000484365.1:n.1499C>G | ||
| ENST00000487809.1:n.738C>G | ||
| ENST00000491123.5:n.837C>G | ||
| NM_003849.3:c.991C>G | NP_003840.2:p.Gln331Glu | |
| NM_003849.4:c.991C>G MANE Select | NP_003840.2:p.Gln331Glu |