Linked Data
ClinVar Variation Id:
329504
dbSNP Id:
rs147128863
ExAC:
19:45855530 G / A
gnomAD v2:
19-45855530-G-A
gnomAD v3:
19-45352272-G-A
gnomAD v4:
19-45352272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352272G>A , CM000681.2:g.45352272G>A | GRCh38 |
| NC_000019.9:g.45855530G>A , CM000681.1:g.45855530G>A | GRCh37 |
| NC_000019.8:g.50547370G>A | NCBI36 |
| NG_007067.2:g.23316C>T , LRG_461:g.23316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2127C>T | ENSP00000375808.4:p.Thr709= | |
| ENST00000682414.1:c.2127C>T | ENSP00000507019.1:p.Thr709= | |
| ENST00000682508.1:n.2156C>T | ||
| ENST00000684218.1:c.*1385C>T | ENSP00000507804.1:n.*1385C>T | |
| ENST00000684264.1:n.1683C>T | ||
| ENST00000684407.1:c.2004C>T | ENSP00000507775.1:p.Thr668= | |
| ENST00000684458.1:c.*613C>T | ENSP00000508260.1:n.*613C>T | |
| ENST00000684468.1:n.1839C>T | ||
| ENST00000391945.10:c.2127C>T MANE Select | ENSP00000375809.4:p.Thr709= | |
| ENST00000646507.1:n.2224C>T | ||
| ENST00000391941.6:c.2055C>T | ENSP00000375805.2:p.Thr685= | |
| ENST00000391942.6:n.1298C>T | ||
| ENST00000391944.7:c.1893C>T | ENSP00000375808.3:p.Thr631= | |
| ENST00000391945.8:c.2127C>T | ENSP00000375809.3:p.Thr709= | |
| ENST00000588652.5:n.2215C>T | ||
| NM_000400.3:c.2127C>T , LRG_461t1:c.2127C>T | NP_000391.1:p.Thr709= | |
| XM_011526611.1:c.2049C>T | XP_011524913.1:p.Thr683= | |
| XM_011526611.2:c.2049C>T | XP_011524913.1:p.Thr683= | |
| XM_017026467.1:c.2004C>T | XP_016881956.1:p.Thr668= | |
| XR_001753633.2:n.2174C>T | ||
| XR_001753634.2:n.2110C>T | ||
| NM_000400.4:c.2127C>T MANE Select | NP_000391.1:p.Thr709= |