Linked Data
ClinVar Variation Id:
1327073
dbSNP Id:
rs763885481
ExAC:
19:45855852 G / A
gnomAD v2:
19-45855852-G-A
gnomAD v3:
19-45352594-G-A
gnomAD v4:
19-45352594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352594G>A , CM000681.2:g.45352594G>A | GRCh38 |
| NC_000019.9:g.45855852G>A , CM000681.1:g.45855852G>A | GRCh37 |
| NC_000019.8:g.50547692G>A | NCBI36 |
| NG_007067.2:g.22994C>T , LRG_461:g.22994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1958C>T | ENSP00000375808.4:p.Thr653Ile | |
| ENST00000682414.1:c.1958C>T | ENSP00000507019.1:p.Thr653Ile | |
| ENST00000682508.1:n.1987C>T | ||
| ENST00000684218.1:c.*1216C>T | ENSP00000507804.1:n.*1216C>T | |
| ENST00000684264.1:n.1514C>T | ||
| ENST00000684407.1:c.1835C>T | ENSP00000507775.1:p.Thr612Ile | |
| ENST00000684458.1:c.*444C>T | ENSP00000508260.1:n.*444C>T | |
| ENST00000684468.1:n.1670C>T | ||
| ENST00000391945.10:c.1958C>T MANE Select | ENSP00000375809.4:p.Thr653Ile | |
| ENST00000646507.1:n.2055C>T | ||
| ENST00000391941.6:c.1886C>T | ENSP00000375805.2:p.Thr629Ile | |
| ENST00000391942.6:n.1129C>T | ||
| ENST00000391944.7:c.1724C>T | ENSP00000375808.3:p.Thr575Ile | |
| ENST00000391945.8:c.1958C>T | ENSP00000375809.3:p.Thr653Ile | |
| ENST00000588652.5:n.2046C>T | ||
| NM_000400.3:c.1958C>T , LRG_461t1:c.1958C>T | NP_000391.1:p.Thr653Ile | |
| XM_011526611.1:c.1880C>T | XP_011524913.1:p.Thr627Ile | |
| XM_011526611.2:c.1880C>T | XP_011524913.1:p.Thr627Ile | |
| XM_017026467.1:c.1835C>T | XP_016881956.1:p.Thr612Ile | |
| XR_001753633.2:n.2005C>T | ||
| XR_001753634.2:n.1941C>T | ||
| NM_000400.4:c.1958C>T MANE Select | NP_000391.1:p.Thr653Ile |