Linked Data
ClinVar Variation Id:
895814
dbSNP Id:
rs139125510
ExAC:
20:56137922 C / T
gnomAD v2:
20-56137922-C-T
gnomAD v3:
20-57562866-C-T
gnomAD v4:
20-57562866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562866C>T , CM000682.2:g.57562866C>T | GRCh38 |
| NC_000020.10:g.56137922C>T , CM000682.1:g.56137922C>T | GRCh37 |
| NC_000020.9:g.55571328C>T | NCBI36 |
| NG_008205.1:g.6786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.577C>T MANE Select | ENSP00000319814.4:p.Leu193Phe | |
| ENST00000319441.5:c.577C>T | ENSP00000319814.4:p.Leu193Phe | |
| ENST00000467047.1:n.1787C>T | ||
| ENST00000470051.1:n.33C>T | ||
| ENST00000498194.1:n.519C>T | ||
| NM_002591.3:c.577C>T | NP_002582.3:p.Leu193Phe | |
| XM_011528839.1:c.181C>T | XP_011527141.1:p.Leu61Phe | |
| XM_024451888.1:c.181C>T | XP_024307656.1:p.Leu61Phe | |
| NM_002591.4:c.577C>T MANE Select | NP_002582.3:p.Leu193Phe |