Linked Data
dbSNP Id:
rs760275444
ExAC:
11:121174158 A / G
gnomAD v2:
11-121174158-A-G
gnomAD v4:
11-121303449-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303449A>G , CM000673.2:g.121303449A>G | GRCh38 |
| NC_000011.9:g.121174158A>G , CM000673.1:g.121174158A>G | GRCh37 |
| NC_000011.8:g.120679368A>G | NCBI36 |
| NG_009446.1:g.15771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.74A>G MANE Select | ENSP00000264027.4:p.Asp25Gly | |
| ENST00000264027.8:c.74A>G | ENSP00000264027.4:p.Asp25Gly | |
| ENST00000392789.2:c.74A>G | ENSP00000376539.2:p.Asp25Gly | |
| ENST00000524683.5:n.130A>G | ||
| ENST00000527762.5:c.74A>G | ENSP00000436290.1:p.Asp25Gly | |
| ENST00000531140.1:n.142A>G | ||
| ENST00000534230.5:c.74A>G | ENSP00000432550.1:p.Asp25Gly | |
| ENST00000534455.5:n.220A>G | ||
| NM_001024956.2:c.74A>G | NP_001020127.1:p.Asp25Gly | |
| NM_006918.4:c.74A>G | NP_008849.2:p.Asp25Gly | |
| NM_006918.5:c.74A>G MANE Select | NP_008849.2:p.Asp25Gly | |
| NM_001024956.3:c.74A>G | NP_001020127.1:p.Asp25Gly |