Linked Data
dbSNP Id:
rs775212976
ExAC:
19:45855523 C / A
gnomAD v2:
19-45855523-C-A
gnomAD v4:
19-45352265-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352265C>A , CM000681.2:g.45352265C>A | GRCh38 |
| NC_000019.9:g.45855523C>A , CM000681.1:g.45855523C>A | GRCh37 |
| NC_000019.8:g.50547363C>A | NCBI36 |
| NG_007067.2:g.23323G>T , LRG_461:g.23323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2134G>T | ENSP00000375808.4:p.Glu712Ter | |
| ENST00000682414.1:c.2134G>T | ENSP00000507019.1:p.Glu712Ter | |
| ENST00000682508.1:n.2163G>T | ||
| ENST00000684218.1:c.*1392G>T | ENSP00000507804.1:n.*1392G>T | |
| ENST00000684264.1:n.1690G>T | ||
| ENST00000684407.1:c.2011G>T | ENSP00000507775.1:p.Glu671Ter | |
| ENST00000684458.1:c.*620G>T | ENSP00000508260.1:n.*620G>T | |
| ENST00000684468.1:n.1846G>T | ||
| ENST00000391945.10:c.2134G>T MANE Select | ENSP00000375809.4:p.Glu712Ter | |
| ENST00000646507.1:n.2231G>T | ||
| ENST00000391941.6:c.2062G>T | ENSP00000375805.2:p.Glu688Ter | |
| ENST00000391942.6:n.1305G>T | ||
| ENST00000391944.7:c.1900G>T | ENSP00000375808.3:p.Glu634Ter | |
| ENST00000391945.8:c.2134G>T | ENSP00000375809.3:p.Glu712Ter | |
| ENST00000588652.5:n.2222G>T | ||
| NM_000400.3:c.2134G>T , LRG_461t1:c.2134G>T | NP_000391.1:p.Glu712Ter | |
| XM_011526611.1:c.2056G>T | XP_011524913.1:p.Glu686Ter | |
| XM_011526611.2:c.2056G>T | XP_011524913.1:p.Glu686Ter | |
| XM_017026467.1:c.2011G>T | XP_016881956.1:p.Glu671Ter | |
| XR_001753633.2:n.2181G>T | ||
| XR_001753634.2:n.2117G>T | ||
| NM_000400.4:c.2134G>T MANE Select | NP_000391.1:p.Glu712Ter |