Linked Data
dbSNP Id:
rs533062241
ExAC:
19:45855501 T / C
gnomAD v2:
19-45855501-T-C
gnomAD v3:
19-45352243-T-C
gnomAD v4:
19-45352243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352243T>C , CM000681.2:g.45352243T>C | GRCh38 |
| NC_000019.9:g.45855501T>C , CM000681.1:g.45855501T>C | GRCh37 |
| NC_000019.8:g.50547341T>C | NCBI36 |
| NG_007067.2:g.23345A>G , LRG_461:g.23345A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2156A>G | ENSP00000375808.4:p.Tyr719Cys | |
| ENST00000682414.1:c.2156A>G | ENSP00000507019.1:p.Tyr719Cys | |
| ENST00000682508.1:n.2185A>G | ||
| ENST00000684218.1:c.*1414A>G | ENSP00000507804.1:n.*1414A>G | |
| ENST00000684264.1:n.1712A>G | ||
| ENST00000684407.1:c.2033A>G | ENSP00000507775.1:p.Tyr678Cys | |
| ENST00000684458.1:c.*642A>G | ENSP00000508260.1:n.*642A>G | |
| ENST00000684468.1:n.1868A>G | ||
| ENST00000391945.10:c.2156A>G MANE Select | ENSP00000375809.4:p.Tyr719Cys | |
| ENST00000646507.1:n.2253A>G | ||
| ENST00000391941.6:c.2084A>G | ENSP00000375805.2:p.Tyr695Cys | |
| ENST00000391942.6:n.1327A>G | ||
| ENST00000391944.7:c.1922A>G | ENSP00000375808.3:p.Tyr641Cys | |
| ENST00000391945.8:c.2156A>G | ENSP00000375809.3:p.Tyr719Cys | |
| ENST00000588652.5:n.2244A>G | ||
| NM_000400.3:c.2156A>G , LRG_461t1:c.2156A>G | NP_000391.1:p.Tyr719Cys | |
| XM_011526611.1:c.2078A>G | XP_011524913.1:p.Tyr693Cys | |
| XM_011526611.2:c.2078A>G | XP_011524913.1:p.Tyr693Cys | |
| XM_017026467.1:c.2033A>G | XP_016881956.1:p.Tyr678Cys | |
| XR_001753633.2:n.2203A>G | ||
| XR_001753634.2:n.2139A>G | ||
| NM_000400.4:c.2156A>G MANE Select | NP_000391.1:p.Tyr719Cys |