Linked Data
gnomAD v4:
19-50859995-C-T
COSMIC:
COSM5390452
MyVariant Identifiers:
chr19:g.51363251C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50859995C>T , CM000681.2:g.50859995C>T | GRCh38 |
| NC_000019.9:g.51363251C>T , CM000681.1:g.51363251C>T | GRCh37 |
| NC_000019.8:g.56055063C>T | NCBI36 |
| NG_011653.1:g.10081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.654C>T MANE Select | ENSP00000314151.1:p.Val218= | |
| ENST00000326003.6:c.654C>T | ENSP00000314151.1:p.Val218= | |
| ENST00000360617.7:c.1096C>T | ENSP00000353829.2:n.1096C>T | |
| ENST00000422986.6:c.*310C>T | ENSP00000393628.2:n.*310C>T | |
| ENST00000595392.5:c.*155C>T | ENSP00000468912.1:n.*155C>T | |
| ENST00000595952.5:c.525C>T | ENSP00000471155.1:p.Val175= | |
| ENST00000596185.5:c.*762C>T | ENSP00000471648.1:n.*762C>T | |
| ENST00000596333.1:n.832C>T | ||
| ENST00000598145.1:c.656C>T | ||
| ENST00000601349.5:n.1933C>T | ||
| ENST00000601812.1:n.1086C>T | ||
| ENST00000617027.4:c.531C>T | ENSP00000483513.1:p.Val177= | |
| NM_001030047.1:c.*379C>T | NP_001025218.1:n.*379C>T | |
| NM_001030048.1:c.525C>T | NP_001025219.1:p.Val175= | |
| NM_001648.2:c.654C>T MANE Select | NP_001639.1:p.Val218= | |
| XM_011526923.1:c.672C>T | XP_011525225.1:p.Val224= | |
| XM_011526924.1:c.*379C>T | XP_011525226.1:n.*379C>T | |
| XR_935817.1:n.1324+741C>T |