Linked Data
dbSNP Id:
rs540807904
gnomAD v3:
19-1104059-C-T
gnomAD v4:
19-1104059-C-T
COSMIC:
COSM5695319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104059C>T , CM000681.2:g.1104059C>T | GRCh38 |
| NC_000019.9:g.1104058C>T , CM000681.1:g.1104058C>T | GRCh37 |
| NC_000019.8:g.1055058C>T | NCBI36 |
| NG_050621.1:g.5134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706713.1:c.16C>T | ENSP00000516510.1:p.Leu6Phe | |
| ENST00000354171.13:c.16C>T MANE Select | ENSP00000346103.7:p.Leu6Phe | |
| ENST00000589115.6:c.16C>T | ENSP00000466872.3:p.Leu6Phe | |
| ENST00000354171.12:c.16C>T | ENSP00000346103.7:p.Leu6Phe | |
| ENST00000589115.5:c.16C>T | ENSP00000466872.2:p.Leu6Phe | |
| ENST00000611653.4:c.-66C>T | ENSP00000483655.1:n.-66C>T | |
| ENST00000616066.4:c.16C>T | ENSP00000485000.1:p.Leu6Phe | |
| NM_001039847.2:c.16C>T | NP_001034936.1:p.Leu6Phe | |
| NM_002085.4:c.16C>T | NP_002076.2:p.Leu6Phe | |
| NM_001039847.3:c.16C>T | NP_001034936.1:p.Leu6Phe | |
| NM_001367832.1:c.-66C>T | NP_001354761.1:n.-66C>T | |
| NM_002085.5:c.16C>T MANE Select | NP_002076.2:p.Leu6Phe |