Linked Data
dbSNP Id:
rs543511292
gnomAD v2:
17-40723598-C-G
gnomAD v3:
17-42571580-C-G
gnomAD v4:
17-42571580-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571580C>G , CM000679.2:g.42571580C>G | GRCh38 |
| NC_000017.10:g.40723598C>G , CM000679.1:g.40723598C>G | GRCh37 |
| NC_000017.9:g.37977124C>G | NCBI36 |
| NG_029442.1:g.9521C>G | |
| NG_031960.1:g.11252G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.712C>G MANE Select | ENSP00000416627.1:p.Gln238Glu | |
| ENST00000246912.8:c.874C>G | ENSP00000246912.3:p.Gln292Glu | |
| ENST00000346833.8:c.622C>G | ENSP00000320913.3:p.Gln208Glu | |
| ENST00000435881.6:c.712C>G | ENSP00000416627.1:p.Gln238Glu | |
| ENST00000585403.5:n.919C>G | ||
| ENST00000588320.1:n.1188C>G | ||
| ENST00000590050.5:n.878C>G | ||
| NM_170607.2:c.874C>G | NP_733752.1:p.Gln292Glu | |
| NM_198204.1:c.712C>G | NP_937847.1:p.Gln238Glu | |
| NM_198205.1:c.622C>G | NP_937848.1:p.Gln208Glu | |
| NM_198204.2:c.712C>G MANE Select | NP_937847.1:p.Gln238Glu | |
| NM_170607.3:c.874C>G | NP_733752.1:p.Gln292Glu | |
| NM_198205.2:c.622C>G | NP_937848.1:p.Gln208Glu |