Linked Data
ClinVar Variation Id:
1432936
ClinVar RCV Id:
RCV001959984
dbSNP Id:
rs1847164443
gnomAD v4:
10-119672420-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672420T>C , CM000672.2:g.119672420T>C | GRCh38 |
| NC_000010.10:g.121431932T>C , CM000672.1:g.121431932T>C | GRCh37 |
| NC_000010.9:g.121421922T>C | NCBI36 |
| NG_016125.1:g.26051T>C , LRG_742:g.26051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.673T>C MANE Select | ENSP00000358081.4:p.Phe225Leu | |
| ENST00000369085.7:c.673T>C | ENSP00000358081.3:p.Phe225Leu | |
| ENST00000450186.1:c.499T>C | ENSP00000410036.1:p.Phe167Leu | |
| NM_004281.3:c.673T>C , LRG_742t1:c.673T>C | NP_004272.2:p.Phe225Leu | |
| XM_005270287.1:c.673T>C | XP_005270344.1:p.Phe225Leu | |
| XM_005270287.2:c.673T>C | XP_005270344.1:p.Phe225Leu | |
| NM_004281.4:c.673T>C MANE Select | NP_004272.2:p.Phe225Leu |