Linked Data
dbSNP Id:
rs754226189
gnomAD v4:
15-80159854-A-G
MyVariant Identifiers:
chr15:g.80452196A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159854A>G , CM000677.2:g.80159854A>G | GRCh38 |
| NC_000015.9:g.80452196A>G , CM000677.1:g.80452196A>G | GRCh37 |
| NC_000015.8:g.78239251A>G | NCBI36 |
| NG_012833.1:g.11856A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.291A>G | ENSP00000507680.1:p.Arg97= | |
| ENST00000682012.1:n.366A>G | ||
| ENST00000683593.1:n.168A>G | ||
| ENST00000684363.1:c.291A>G | ENSP00000507314.1:p.Arg97= | |
| ENST00000684569.1:n.336A>G | ||
| ENST00000561421.6:c.291A>G MANE Select | ENSP00000453347.2:p.Arg97= | |
| ENST00000646551.1:n.1778A>G | ||
| ENST00000261755.9:c.291A>G | ENSP00000261755.5:p.Arg97= | |
| ENST00000407106.5:c.291A>G | ENSP00000385080.1:p.Arg97= | |
| ENST00000537726.5:n.373A>G | ||
| ENST00000539156.5:c.81A>G | ENSP00000454271.1:p.Arg27= | |
| ENST00000558022.5:c.291A>G | ENSP00000453152.1:p.Arg97= | |
| ENST00000558767.5:n.552A>G | ||
| ENST00000561369.1:n.371A>G | ||
| ENST00000561421.5:c.291A>G | ENSP00000453347.1:p.Arg97= | |
| NM_000137.2:c.291A>G | NP_000128.1:p.Arg97= | |
| XM_024449872.1:c.291A>G | XP_024305640.1:p.Arg97= | |
| NM_000137.4:c.291A>G MANE Select | NP_000128.1:p.Arg97= | |
| NM_001374377.1:c.291A>G | NP_001361306.1:p.Arg97= | |
| NM_001374380.1:c.291A>G | NP_001361309.1:p.Arg97= |