Linked Data
ClinVar Variation Id:
16788
dbSNP Id:
rs121913024
ExAC:
19:45856060 G / A
gnomAD v2:
19-45856060-G-A
gnomAD v3:
19-45352802-G-A
gnomAD v4:
19-45352802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352802G>A , CM000681.2:g.45352802G>A | GRCh38 |
| NC_000019.9:g.45856060G>A , CM000681.1:g.45856060G>A | GRCh37 |
| NC_000019.8:g.50547900G>A | NCBI36 |
| NG_007067.2:g.22786C>T , LRG_461:g.22786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1846C>T | ENSP00000375808.4:p.Arg616Trp | |
| ENST00000682414.1:c.1846C>T | ENSP00000507019.1:p.Arg616Trp | |
| ENST00000682508.1:n.1875C>T | ||
| ENST00000684218.1:c.*1104C>T | ENSP00000507804.1:n.*1104C>T | |
| ENST00000684264.1:n.1402C>T | ||
| ENST00000684407.1:c.1723C>T | ENSP00000507775.1:p.Arg575Trp | |
| ENST00000684458.1:c.*332C>T | ENSP00000508260.1:n.*332C>T | |
| ENST00000684468.1:n.1558C>T | ||
| ENST00000391945.10:c.1846C>T MANE Select | ENSP00000375809.4:p.Arg616Trp | |
| ENST00000646507.1:n.1943C>T | ||
| ENST00000391941.6:c.1774C>T | ENSP00000375805.2:p.Arg592Trp | |
| ENST00000391942.6:n.1017C>T | ||
| ENST00000391944.7:c.1612C>T | ENSP00000375808.3:p.Arg538Trp | |
| ENST00000391945.8:c.1846C>T | ENSP00000375809.3:p.Arg616Trp | |
| ENST00000588652.5:n.1934C>T | ||
| NM_000400.3:c.1846C>T , LRG_461t1:c.1846C>T | NP_000391.1:p.Arg616Trp | |
| XM_011526611.1:c.1768C>T | XP_011524913.1:p.Arg590Trp | |
| XM_011526611.2:c.1768C>T | XP_011524913.1:p.Arg590Trp | |
| XM_017026467.1:c.1723C>T | XP_016881956.1:p.Arg575Trp | |
| XR_001753633.2:n.1893C>T | ||
| XR_001753634.2:n.1829C>T | ||
| NM_000400.4:c.1846C>T MANE Select | NP_000391.1:p.Arg616Trp |