Linked Data
ClinVar Variation Id:
200278
ClinVar RCV Id:
RCV000181753
dbSNP Id:
rs794728352
COSMIC:
COSM226189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959665G>A , CM000669.2:g.150959665G>A | GRCh38 |
| NC_000007.13:g.150656753G>A , CM000669.1:g.150656753G>A | GRCh37 |
| NC_000007.12:g.150287686G>A | NCBI36 |
| NG_008916.1:g.23262C>T , LRG_288:g.23262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1212C>T | ||
| ENST00000262186.10:c.379C>T MANE Select | ENSP00000262186.5:p.Leu127Phe | |
| ENST00000262186.9:c.379C>T | ENSP00000262186.5:p.Leu127Phe | |
| ENST00000430723.4:c.202C>T | ENSP00000387657.4:p.Leu68Phe | |
| ENST00000532957.5:n.602C>T | ||
| NM_000238.3:c.379C>T , LRG_288t1:c.379C>T | NP_000229.1:p.Leu127Phe | |
| NM_172056.2:c.379C>T , LRG_288t2:c.379C>T | NP_742053.1:p.Leu127Phe | |
| XM_011516185.1:c.79C>T | XP_011514487.1:p.Leu27Phe | |
| XM_011516186.1:c.379C>T | XP_011514488.1:p.Leu127Phe | |
| XM_011516185.2:c.79C>T | XP_011514487.1:p.Leu27Phe | |
| XM_011516186.3:c.379C>T | XP_011514488.1:p.Leu127Phe | |
| XM_017012195.1:c.229C>T | XP_016867684.1:p.Leu77Phe | |
| XM_017012196.1:c.202C>T | XP_016867685.1:p.Leu68Phe | |
| NM_000238.4:c.379C>T MANE Select | NP_000229.1:p.Leu127Phe |