Linked Data
ClinVar Variation Id:
1782108
dbSNP Id:
rs368247227
ExAC:
19:45856013 G / A
gnomAD v2:
19-45856013-G-A
gnomAD v3:
19-45352755-G-A
gnomAD v4:
19-45352755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352755G>A , CM000681.2:g.45352755G>A | GRCh38 |
| NC_000019.9:g.45856013G>A , CM000681.1:g.45856013G>A | GRCh37 |
| NC_000019.8:g.50547853G>A | NCBI36 |
| NG_007067.2:g.22833C>T , LRG_461:g.22833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1893C>T | ENSP00000375808.4:p.Arg631= | |
| ENST00000682414.1:c.1893C>T | ENSP00000507019.1:p.Arg631= | |
| ENST00000682508.1:n.1922C>T | ||
| ENST00000684218.1:c.*1151C>T | ENSP00000507804.1:n.*1151C>T | |
| ENST00000684264.1:n.1449C>T | ||
| ENST00000684407.1:c.1770C>T | ENSP00000507775.1:p.Arg590= | |
| ENST00000684458.1:c.*379C>T | ENSP00000508260.1:n.*379C>T | |
| ENST00000684468.1:n.1605C>T | ||
| ENST00000391945.10:c.1893C>T MANE Select | ENSP00000375809.4:p.Arg631= | |
| ENST00000646507.1:n.1990C>T | ||
| ENST00000391941.6:c.1821C>T | ENSP00000375805.2:p.Arg607= | |
| ENST00000391942.6:n.1064C>T | ||
| ENST00000391944.7:c.1659C>T | ENSP00000375808.3:p.Arg553= | |
| ENST00000391945.8:c.1893C>T | ENSP00000375809.3:p.Arg631= | |
| ENST00000588652.5:n.1981C>T | ||
| NM_000400.3:c.1893C>T , LRG_461t1:c.1893C>T | NP_000391.1:p.Arg631= | |
| XM_011526611.1:c.1815C>T | XP_011524913.1:p.Arg605= | |
| XM_011526611.2:c.1815C>T | XP_011524913.1:p.Arg605= | |
| XM_017026467.1:c.1770C>T | XP_016881956.1:p.Arg590= | |
| XR_001753633.2:n.1940C>T | ||
| XR_001753634.2:n.1876C>T | ||
| NM_000400.4:c.1893C>T MANE Select | NP_000391.1:p.Arg631= |