Linked Data
dbSNP Id:
rs201392911
ExAC:
19:45855574 G / T
gnomAD v2:
19-45855574-G-T
gnomAD v3:
19-45352316-G-T
gnomAD v4:
19-45352316-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352316G>T , CM000681.2:g.45352316G>T | GRCh38 |
| NC_000019.9:g.45855574G>T , CM000681.1:g.45855574G>T | GRCh37 |
| NC_000019.8:g.50547414G>T | NCBI36 |
| NG_007067.2:g.23272C>A , LRG_461:g.23272C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2083C>A | ENSP00000375808.4:p.Arg695Ser | |
| ENST00000682414.1:c.2083C>A | ENSP00000507019.1:p.Arg695Ser | |
| ENST00000682508.1:n.2112C>A | ||
| ENST00000684218.1:c.*1341C>A | ENSP00000507804.1:n.*1341C>A | |
| ENST00000684264.1:n.1639C>A | ||
| ENST00000684407.1:c.1960C>A | ENSP00000507775.1:p.Arg654Ser | |
| ENST00000684458.1:c.*569C>A | ENSP00000508260.1:n.*569C>A | |
| ENST00000684468.1:n.1795C>A | ||
| ENST00000391945.10:c.2083C>A MANE Select | ENSP00000375809.4:p.Arg695Ser | |
| ENST00000646507.1:n.2180C>A | ||
| ENST00000391941.6:c.2011C>A | ENSP00000375805.2:p.Arg671Ser | |
| ENST00000391942.6:n.1254C>A | ||
| ENST00000391944.7:c.1849C>A | ENSP00000375808.3:p.Arg617Ser | |
| ENST00000391945.8:c.2083C>A | ENSP00000375809.3:p.Arg695Ser | |
| ENST00000588652.5:n.2171C>A | ||
| NM_000400.3:c.2083C>A , LRG_461t1:c.2083C>A | NP_000391.1:p.Arg695Ser | |
| XM_011526611.1:c.2005C>A | XP_011524913.1:p.Arg669Ser | |
| XM_011526611.2:c.2005C>A | XP_011524913.1:p.Arg669Ser | |
| XM_017026467.1:c.1960C>A | XP_016881956.1:p.Arg654Ser | |
| XR_001753633.2:n.2130C>A | ||
| XR_001753634.2:n.2066C>A | ||
| NM_000400.4:c.2083C>A MANE Select | NP_000391.1:p.Arg695Ser |