Linked Data
dbSNP Id:
rs748654769
ExAC:
19:41930350 A / G
gnomAD v2:
19-41930350-A-G
gnomAD v4:
19-41424445-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424445A>G , CM000681.2:g.41424445A>G | GRCh38 |
| NC_000019.9:g.41930350A>G , CM000681.1:g.41930350A>G | GRCh37 |
| NC_000019.8:g.46622190A>G | NCBI36 |
| NG_013004.1:g.31657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1175A>G MANE Select | ENSP00000269980.2:p.Glu392Gly | |
| ENST00000269980.6:c.1175A>G | ENSP00000269980.2:p.Glu392Gly | |
| ENST00000457836.6:c.1184A>G | ENSP00000416000.2:p.Glu395Gly | |
| ENST00000540732.3:c.1277A>G | ENSP00000443246.1:p.Glu426Gly | |
| ENST00000544905.1:c.62-57A>G | ||
| ENST00000595085.5:c.922+1748A>G | ENSP00000471150.2:n.922+1748A>G | |
| NM_000709.3:c.1175A>G | NP_000700.1:p.Glu392Gly | |
| NM_001164783.1:c.1172A>G | NP_001158255.1:p.Glu391Gly | |
| NM_000709.4:c.1175A>G MANE Select | NP_000700.1:p.Glu392Gly | |
| NM_001164783.2:c.1172A>G | NP_001158255.1:p.Glu391Gly |