Linked Data
dbSNP Id:
rs374237420
ExAC:
11:121393355 C / T
gnomAD v2:
11-121393355-C-T
gnomAD v3:
11-121522646-C-T
gnomAD v4:
11-121522646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522646C>T , CM000673.2:g.121522646C>T | GRCh38 |
| NC_000011.9:g.121393355C>T , CM000673.1:g.121393355C>T | GRCh37 |
| NC_000011.8:g.120898565C>T | NCBI36 |
| NG_023313.1:g.75395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1465C>T MANE Select | ENSP00000260197.6:p.Leu489Phe | |
| ENST00000260197.11:c.1465C>T | ENSP00000260197.6:p.Leu489Phe | |
| ENST00000532451.1:n.1417C>T | ||
| NM_003105.5:c.1465C>T | NP_003096.1:p.Leu489Phe | |
| XM_011542963.1:c.1465C>T | XP_011541265.1:p.Leu489Phe | |
| XM_011542964.1:c.1465C>T | XP_011541266.1:p.Leu489Phe | |
| XM_011542965.1:c.-158C>T | XP_011541267.1:n.-158C>T | |
| XM_011542963.3:c.1465C>T | XP_011541265.1:p.Leu489Phe | |
| XM_011542965.3:c.-158C>T | XP_011541267.1:n.-158C>T | |
| XM_017018169.2:c.1153C>T | XP_016873658.1:p.Leu385Phe | |
| XM_017018170.2:c.940C>T | XP_016873659.1:p.Leu314Phe | |
| XM_017018171.1:c.1465C>T | XP_016873660.1:p.Leu489Phe | |
| NM_003105.6:c.1465C>T MANE Select | NP_003096.2:p.Leu489Phe |