Linked Data
dbSNP Id:
rs757941122
ExAC:
1:46663439 G / C
gnomAD v2:
1-46663439-G-C
gnomAD v4:
1-46197767-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46197767G>C , CM000663.2:g.46197767G>C | GRCh38 |
| NC_000001.10:g.46663439G>C , CM000663.1:g.46663439G>C | GRCh37 |
| NC_000001.9:g.46436026G>C | NCBI36 |
| NG_009205.2:g.27539C>G | |
| NG_009205.3:g.27539C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396420.8:c.55C>G | ENSP00000379698.4:p.Arg19Gly | |
| ENST00000477114.2:n.227C>G | ||
| ENST00000497439.6:n.227C>G | ||
| ENST00000684817.1:n.223C>G | ||
| ENST00000684898.1:n.227C>G | ||
| ENST00000685230.1:c.55C>G | ENSP00000510305.1:p.Arg19Gly | |
| ENST00000685275.1:n.212C>G | ||
| ENST00000685444.1:c.55C>G | ENSP00000510762.1:p.Arg19Gly | |
| ENST00000685704.1:n.227C>G | ||
| ENST00000685775.1:n.227C>G | ||
| ENST00000685833.1:n.200C>G | ||
| ENST00000686252.1:n.356C>G | ||
| ENST00000686379.1:c.55C>G | ENSP00000508913.1:p.Arg19Gly | |
| ENST00000686724.1:n.227C>G | ||
| ENST00000686737.1:c.55C>G | ENSP00000508736.1:p.Arg19Gly | |
| ENST00000687112.1:n.227C>G | ||
| ENST00000687149.1:c.55C>G | ENSP00000509745.1:p.Arg19Gly | |
| ENST00000687197.1:c.55C>G | ENSP00000510749.1:p.Arg19Gly | |
| ENST00000687235.1:n.227C>G | ||
| ENST00000687613.1:n.223C>G | ||
| ENST00000687683.1:c.55C>G | ENSP00000508522.1:p.Arg19Gly | |
| ENST00000688032.1:n.227C>G | ||
| ENST00000688596.1:n.227C>G | ||
| ENST00000688608.1:c.55C>G | ENSP00000508890.1:p.Arg19Gly | |
| ENST00000688919.1:n.208C>G | ||
| ENST00000689031.1:n.227C>G | ||
| ENST00000689717.1:n.227C>G | ||
| ENST00000689756.1:c.55C>G | ENSP00000509023.1:p.Arg19Gly | |
| ENST00000690377.1:n.227C>G | ||
| ENST00000690678.1:c.55C>G | ENSP00000508703.1:p.Arg19Gly | |
| ENST00000691209.1:c.55C>G | ENSP00000510112.1:p.Arg19Gly | |
| ENST00000691243.1:c.55C>G | ENSP00000510654.1:p.Arg19Gly | |
| ENST00000692169.1:n.227C>G | ||
| ENST00000692202.1:n.223C>G | ||
| ENST00000692322.1:c.55C>G | ENSP00000509017.1:p.Arg19Gly | |
| ENST00000692369.1:c.55C>G | ENSP00000508453.1:p.Arg19Gly | |
| ENST00000692599.1:n.227C>G | ||
| ENST00000692635.1:c.55C>G | ENSP00000508425.1:p.Arg19Gly | |
| ENST00000693168.1:n.227C>G | ||
| ENST00000693218.1:c.55C>G | ENSP00000510577.1:p.Arg19Gly | |
| ENST00000693223.1:n.703C>G | ||
| ENST00000693365.1:n.181C>G | ||
| ENST00000371984.8:c.55C>G MANE Select | ENSP00000361052.3:p.Arg19Gly | |
| ENST00000371984.7:c.55C>G | ENSP00000361052.3:p.Arg19Gly | |
| ENST00000371992.1:c.55C>G | ENSP00000361060.1:p.Arg19Gly | |
| ENST00000396420.7:c.55C>G | ENSP00000379698.3:p.Arg19Gly | |
| ENST00000489985.1:n.336C>G | ||
| ENST00000497439.5:n.179C>G | ||
| NM_001243766.1:c.55C>G | NP_001230695.1:p.Arg19Gly | |
| NM_017739.3:c.55C>G | NP_060209.3:p.Arg19Gly | |
| XM_005271010.1:c.55C>G | XP_005271067.1:p.Arg19Gly | |
| XM_006710755.1:c.55C>G | XP_006710818.1:p.Arg19Gly | |
| XM_006710756.1:c.55C>G | XP_006710819.1:p.Arg19Gly | |
| XR_946706.1:n.214C>G | ||
| XM_017001690.1:c.55C>G | XP_016857179.1:p.Arg19Gly | |
| NM_001243766.2:c.55C>G | NP_001230695.2:p.Arg19Gly | |
| NM_017739.4:c.55C>G MANE Select | NP_060209.4:p.Arg19Gly |