Linked Data
ClinVar Variation Id:
2645188
ClinVar RCV Id:
RCV003400872
dbSNP Id:
rs1264865292
gnomAD v3:
15-40931598-C-T
gnomAD v4:
15-40931598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931598C>T , CM000677.2:g.40931598C>T | GRCh38 |
| NC_000015.9:g.41223796C>T , CM000677.1:g.41223796C>T | GRCh37 |
| NC_000015.8:g.39011088C>T | NCBI36 |
| NG_046974.1:g.7266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.490C>T MANE Select | ENSP00000249749.5:p.Leu164Phe | |
| ENST00000249749.6:c.490C>T | ENSP00000249749.5:p.Leu164Phe | |
| ENST00000559440.1:n.719C>T | ||
| NM_019074.3:c.490C>T | NP_061947.1:p.Leu164Phe | |
| NM_019074.4:c.490C>T MANE Select | NP_061947.1:p.Leu164Phe |