Linked Data
dbSNP Id:
rs756579459
ExAC:
15:80460627 C / G
gnomAD v2:
15-80460627-C-G
gnomAD v4:
15-80168285-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168285C>G , CM000677.2:g.80168285C>G | GRCh38 |
| NC_000015.9:g.80460627C>G , CM000677.1:g.80460627C>G | GRCh37 |
| NC_000015.8:g.78247682C>G | NCBI36 |
| NG_012833.1:g.20287C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.764C>G | ||
| ENST00000684569.1:n.620C>G | ||
| ENST00000561421.6:c.575C>G MANE Select | ENSP00000453347.2:p.Ala192Gly | |
| ENST00000646551.1:n.2202C>G | ||
| ENST00000261755.9:c.575C>G | ENSP00000261755.5:p.Ala192Gly | |
| ENST00000407106.5:c.575C>G | ENSP00000385080.1:p.Ala192Gly | |
| ENST00000539156.5:c.365C>G | ENSP00000454271.1:p.Ala122Gly | |
| ENST00000558514.1:n.121C>G | ||
| ENST00000558627.1:n.503C>G | ||
| ENST00000561421.5:c.575C>G | ENSP00000453347.1:p.Ala192Gly | |
| NM_000137.2:c.575C>G | NP_000128.1:p.Ala192Gly | |
| XM_024449872.1:c.575C>G | XP_024305640.1:p.Ala192Gly | |
| NM_000137.4:c.575C>G MANE Select | NP_000128.1:p.Ala192Gly | |
| NM_001374377.1:c.575C>G | NP_001361306.1:p.Ala192Gly | |
| NM_001374380.1:c.575C>G | NP_001361309.1:p.Ala192Gly |