Linked Data
dbSNP Id:
rs750364723
ExAC:
19:45856501 T / A
gnomAD v2:
19-45856501-T-A
gnomAD v4:
19-45353243-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45353243T>A , CM000681.2:g.45353243T>A | GRCh38 |
| NC_000019.9:g.45856501T>A , CM000681.1:g.45856501T>A | GRCh37 |
| NC_000019.8:g.50548341T>A | NCBI36 |
| NG_007067.2:g.22345A>T , LRG_461:g.22345A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1757A>T | ENSP00000375808.4:p.Glu586Val | |
| ENST00000682414.1:c.1757A>T | ENSP00000507019.1:p.Glu586Val | |
| ENST00000682508.1:n.1786A>T | ||
| ENST00000684218.1:c.*1015A>T | ENSP00000507804.1:n.*1015A>T | |
| ENST00000684264.1:n.1313A>T | ||
| ENST00000684407.1:c.1634A>T | ENSP00000507775.1:p.Glu545Val | |
| ENST00000684458.1:c.*243A>T | ENSP00000508260.1:n.*243A>T | |
| ENST00000684468.1:n.1469A>T | ||
| ENST00000391945.10:c.1757A>T MANE Select | ENSP00000375809.4:p.Glu586Val | |
| ENST00000587376.6:c.816A>T | ||
| ENST00000646507.1:n.1854A>T | ||
| ENST00000391941.6:c.1685A>T | ENSP00000375805.2:p.Glu562Val | |
| ENST00000391942.6:n.928A>T | ||
| ENST00000391944.7:c.1523A>T | ENSP00000375808.3:p.Glu508Val | |
| ENST00000391945.8:c.1757A>T | ENSP00000375809.3:p.Glu586Val | |
| ENST00000587376.5:c.816A>T | ||
| ENST00000588652.5:n.1845A>T | ||
| NM_000400.3:c.1757A>T , LRG_461t1:c.1757A>T | NP_000391.1:p.Glu586Val | |
| XM_011526611.1:c.1679A>T | XP_011524913.1:p.Glu560Val | |
| XR_935763.1:n.1740A>T | ||
| XM_011526611.2:c.1679A>T | XP_011524913.1:p.Glu560Val | |
| XM_017026467.1:c.1634A>T | XP_016881956.1:p.Glu545Val | |
| XR_001753633.2:n.1804A>T | ||
| XR_001753634.2:n.1740A>T | ||
| NM_000400.4:c.1757A>T MANE Select | NP_000391.1:p.Glu586Val |