Linked Data
ClinVar Variation Id:
748264
dbSNP Id:
rs145546137
ExAC:
6:12294584 A / C
gnomAD v2:
6-12294584-A-C
gnomAD v3:
6-12294351-A-C
gnomAD v4:
6-12294351-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12294351A>C , CM000668.2:g.12294351A>C | GRCh38 |
| NC_000006.11:g.12294584A>C , CM000668.1:g.12294584A>C | GRCh37 |
| NC_000006.10:g.12402570A>C | NCBI36 |
| NG_016196.1:g.9056A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.480A>C MANE Select | ENSP00000368683.5:p.Leu160Phe | |
| ENST00000379375.5:c.480A>C | ENSP00000368683.5:p.Leu160Phe | |
| NM_001168319.1:c.477A>C | NP_001161791.1:p.Leu159Phe | |
| NM_001955.4:c.480A>C | NP_001946.3:p.Leu160Phe | |
| XM_011514330.1:c.480A>C | XP_011512632.1:p.Leu160Phe | |
| XM_011514331.1:c.480A>C | XP_011512633.1:p.Leu160Phe | |
| XM_011514332.1:c.477A>C | XP_011512634.1:p.Leu159Phe | |
| XM_011514330.2:c.480A>C | XP_011512632.1:p.Leu160Phe | |
| XM_011514331.3:c.480A>C | XP_011512633.1:p.Leu160Phe | |
| XM_011514332.2:c.477A>C | XP_011512634.1:p.Leu159Phe | |
| XM_017010331.1:c.480A>C | XP_016865820.1:p.Leu160Phe | |
| NM_001955.5:c.480A>C MANE Select | NP_001946.3:p.Leu160Phe | |
| NM_001168319.2:c.477A>C | NP_001161791.1:p.Leu159Phe |