Linked Data
dbSNP Id:
rs1428156259
gnomAD v2:
19-51363264-C-T
gnomAD v3:
19-50860008-C-T
gnomAD v4:
19-50860008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860008C>T , CM000681.2:g.50860008C>T | GRCh38 |
| NC_000019.9:g.51363264C>T , CM000681.1:g.51363264C>T | GRCh37 |
| NC_000019.8:g.56055076C>T | NCBI36 |
| NG_011653.1:g.10094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.667C>T MANE Select | ENSP00000314151.1:p.Leu223Phe | |
| ENST00000326003.6:c.667C>T | ENSP00000314151.1:p.Leu223Phe | |
| ENST00000360617.7:c.1109C>T | ENSP00000353829.2:n.1109C>T | |
| ENST00000422986.6:c.*323C>T | ENSP00000393628.2:n.*323C>T | |
| ENST00000595392.5:c.*168C>T | ENSP00000468912.1:n.*168C>T | |
| ENST00000595952.5:c.538C>T | ENSP00000471155.1:p.Leu180Phe | |
| ENST00000596333.1:n.845C>T | ||
| ENST00000598145.1:c.669C>T | ||
| ENST00000601349.5:n.1946C>T | ||
| ENST00000601812.1:n.1099C>T | ||
| ENST00000617027.4:c.544C>T | ENSP00000483513.1:p.Leu182Phe | |
| NM_001030047.1:c.*392C>T | NP_001025218.1:n.*392C>T | |
| NM_001030048.1:c.538C>T | NP_001025219.1:p.Leu180Phe | |
| NM_001648.2:c.667C>T MANE Select | NP_001639.1:p.Leu223Phe | |
| XM_011526923.1:c.685C>T | XP_011525225.1:p.Leu229Phe | |
| XM_011526924.1:c.*392C>T | XP_011525226.1:n.*392C>T | |
| XR_935817.1:n.1324+754C>T |