Linked Data
dbSNP Id:
rs2114737134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890475G>T , CM000668.2:g.131890475G>T | GRCh38 |
| NC_000006.11:g.132211615G>T , CM000668.1:g.132211615G>T | GRCh37 |
| NC_000006.10:g.132253308G>T | NCBI36 |
| NG_008206.1:g.87460G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1173G>T | ||
| ENST00000647893.1:c.2742G>T MANE Select | ENSP00000498074.1:p.Leu914Phe | |
| ENST00000360971.6:c.2742G>T | ENSP00000354238.2:p.Leu914Phe | |
| ENST00000513998.5:c.*1579G>T | ENSP00000422424.1:n.*1579G>T | |
| NM_006208.2:c.2742G>T | NP_006199.2:p.Leu914Phe | |
| XM_011535896.1:c.1632G>T | XP_011534198.1:p.Leu544Phe | |
| NM_006208.3:c.2742G>T MANE Select | NP_006199.2:p.Leu914Phe |