Linked Data
ClinVar Variation Id:
452290
ClinVar RCV Id:
RCV000520436
dbSNP Id:
rs1312486049
gnomAD v3:
16-89191861-C-T
gnomAD v4:
16-89191861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89191861C>T , CM000678.2:g.89191861C>T | GRCh38 |
| NC_000016.9:g.89258269C>T , CM000678.1:g.89258269C>T | GRCh37 |
| NC_000016.8:g.87785770C>T | NCBI36 |
| NG_012055.1:g.25107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.1582C>T MANE Select | ENSP00000289746.2:p.Leu528Phe | |
| ENST00000289746.2:c.1582C>T | ENSP00000289746.2:p.Leu528Phe | |
| NM_004933.2:c.1582C>T | NP_004924.1:p.Leu528Phe | |
| XM_011522806.1:c.1582C>T | XP_011521108.1:p.Leu528Phe | |
| NM_004933.3:c.1582C>T MANE Select | NP_004924.1:p.Leu528Phe |