Linked Data
dbSNP Id:
rs776923151
ExAC:
17:73512896 C / G
gnomAD v2:
17-73512896-C-G
gnomAD v4:
17-75516815-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516815C>G , CM000679.2:g.75516815C>G | GRCh38 |
| NC_000017.10:g.73512896C>G , CM000679.1:g.73512896C>G | GRCh37 |
| NC_000017.9:g.71024491C>G | NCBI36 |
| NG_013041.1:g.5288C>G | |
| NG_033152.1:g.3769G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.126C>G MANE Select | ENSP00000327487.6:p.Asp42Glu | |
| ENST00000434205.8:c.-82-194C>G | ENSP00000406559.4:n.-82-194C>G | |
| ENST00000545228.3:c.126C>G | ENSP00000438169.3:p.Asp42Glu | |
| ENST00000579449.2:n.21-194C>G | ||
| ENST00000580013.6:n.135C>G | ||
| ENST00000583818.2:c.126C>G | ENSP00000461928.2:p.Asp42Glu | |
| ENST00000679370.1:n.513C>G | ||
| ENST00000679429.1:c.126C>G | ENSP00000505403.1:p.Asp42Glu | |
| ENST00000679443.1:n.1C>G | ||
| ENST00000679782.1:c.126C>G | ENSP00000505995.1:p.Asp42Glu | |
| ENST00000679919.1:n.1C>G | ||
| ENST00000679928.1:c.126C>G | ENSP00000506071.1:p.Asp42Glu | |
| ENST00000680528.1:n.151C>G | ||
| ENST00000680999.1:c.126C>G | ENSP00000504984.1:p.Asp42Glu | |
| ENST00000681282.1:c.126C>G | ENSP00000506339.1:p.Asp42Glu | |
| ENST00000333213.10:c.126C>G | ENSP00000327487.6:p.Asp42Glu | |
| ENST00000434205.7:c.-82-194C>G | ENSP00000406559.3:n.-82-194C>G | |
| ENST00000578415.1:c.4C>G | ||
| ENST00000580013.5:n.151C>G | ||
| ENST00000583173.5:c.57-194C>G | ENSP00000463619.1:n.57-194C>G | |
| ENST00000583454.1:n.161C>G | ||
| ENST00000583818.1:c.21C>G | ENSP00000461928.1:p.Asp7Glu | |
| NM_207346.2:c.126C>G | NP_997229.2:p.Asp42Glu | |
| XM_005257229.2:c.126C>G | XP_005257286.1:p.Asp42Glu | |
| XM_006721821.2:c.-178C>G | XP_006721884.1:n.-178C>G | |
| XM_011524616.1:c.126C>G | XP_011522918.1:p.Asp42Glu | |
| XM_011524617.1:c.126C>G | XP_011522919.1:p.Asp42Glu | |
| XM_011524618.1:c.126C>G | XP_011522920.1:p.Asp42Glu | |
| XR_243646.2:n.156C>G | ||
| XM_005257229.4:c.126C>G | XP_005257286.1:p.Asp42Glu | |
| XR_243646.4:n.162C>G | ||
| NM_207346.3:c.126C>G MANE Select | NP_997229.2:p.Asp42Glu |