Linked Data
ClinVar Variation Id:
2169595
ClinVar RCV Id:
RCV003084911
dbSNP Id:
rs776750536
ExAC:
17:40693182 C / T
gnomAD v2:
17-40693182-C-T
gnomAD v4:
17-42541164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541164C>T , CM000679.2:g.42541164C>T | GRCh38 |
| NC_000017.10:g.40693182C>T , CM000679.1:g.40693182C>T | GRCh37 |
| NC_000017.9:g.37946708C>T | NCBI36 |
| NG_011552.1:g.10232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.979C>T MANE Select | ENSP00000225927.1:p.Leu327Phe | |
| ENST00000225927.6:c.979C>T | ENSP00000225927.1:p.Leu327Phe | |
| ENST00000591587.1:c.360-1864C>T | ENSP00000467836.1:n.360-1864C>T | |
| ENST00000592454.1:c.74C>T | ||
| NM_000263.3:c.979C>T | NP_000254.2:p.Leu327Phe | |
| XM_006721920.2:c.148C>T | XP_006721983.1:p.Leu50Phe | |
| XM_011524840.1:c.23-1864C>T | XP_011523142.1:n.23-1864C>T | |
| XM_017024687.1:c.148C>T | XP_016880176.1:p.Leu50Phe | |
| XM_024450771.1:c.1036C>T | XP_024306539.1:p.Leu346Phe | |
| XM_024450772.1:c.23-1864C>T | XP_024306540.1:n.23-1864C>T | |
| NM_000263.4:c.979C>T MANE Select | NP_000254.2:p.Leu327Phe |