Linked Data
dbSNP Id:
rs1270468066
gnomAD v2:
3-50293673-C-G
gnomAD v3:
3-50256241-C-G
gnomAD v4:
3-50256241-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256241C>G , CM000665.2:g.50256241C>G | GRCh38 |
| NC_000003.11:g.50293673C>G , CM000665.1:g.50293673C>G | GRCh37 |
| NC_000003.10:g.50268677C>G | NCBI36 |
| NG_016002.2:g.34554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.514C>G MANE Select | ENSP00000312999.6:p.Gln172Glu | |
| ENST00000266027.9:c.358C>G | ENSP00000266027.6:p.Gln120Glu | |
| ENST00000313601.10:c.514C>G | ENSP00000312999.6:p.Gln172Glu | |
| ENST00000422163.5:c.466C>G | ENSP00000406871.1:p.Gln156Glu | |
| ENST00000440628.5:c.358C>G | ENSP00000395736.1:p.Gln120Glu | |
| ENST00000441156.5:c.*42C>G | ENSP00000394321.1:n.*42C>G | |
| ENST00000446079.5:c.*149C>G | ENSP00000406065.1:n.*149C>G | |
| ENST00000451956.1:c.403C>G | ENSP00000406369.1:p.Gln135Glu | |
| ENST00000468422.1:n.81C>G | ||
| ENST00000490122.5:n.1341C>G | ||
| ENST00000491100.5:n.2330C>G | ||
| NM_001166425.1:c.403C>G | NP_001159897.1:p.Gln135Glu | |
| NM_001282617.1:c.358C>G | NP_001269546.1:p.Gln120Glu | |
| NM_001282618.1:c.271C>G | NP_001269547.1:p.Gln91Glu | |
| NM_001282619.1:c.466C>G | NP_001269548.1:p.Gln156Glu | |
| NM_001282620.1:c.466C>G | NP_001269549.1:p.Gln156Glu | |
| NM_002070.3:c.514C>G | NP_002061.1:p.Gln172Glu | |
| NM_002070.4:c.514C>G MANE Select | NP_002061.1:p.Gln172Glu | |
| NM_001166425.2:c.403C>G | NP_001159897.1:p.Gln135Glu | |
| NM_001282618.2:c.271C>G | NP_001269547.1:p.Gln91Glu | |
| NM_001282619.2:c.466C>G | NP_001269548.1:p.Gln156Glu | |
| NM_001282620.2:c.466C>G | NP_001269549.1:p.Gln156Glu | |
| NM_001282617.2:c.358C>G | NP_001269546.1:p.Gln120Glu |