Linked Data
dbSNP Id:
rs1219876266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265239A>C , CM000664.2:g.96265239A>C | GRCh38 |
| NC_000002.11:g.96930977A>C , CM000664.1:g.96930977A>C | GRCh37 |
| NC_000002.10:g.96294704A>C | NCBI36 |
| NG_027695.1:g.5775T>G , LRG_528:g.5775T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.143T>G MANE Select | ENSP00000258439.3:p.Leu48Arg | |
| ENST00000258439.7:c.143T>G | ENSP00000258439.2:p.Leu48Arg | |
| ENST00000432959.1:c.143T>G | ENSP00000416660.1:p.Leu48Arg | |
| NM_001193304.2:c.143T>G | NP_001180233.1:p.Leu48Arg | |
| NM_017849.3:c.143T>G , LRG_528t1:c.143T>G | NP_060319.1:p.Leu48Arg | |
| NM_001193304.3:c.143T>G | NP_001180233.1:p.Leu48Arg | |
| NM_017849.4:c.143T>G MANE Select | NP_060319.1:p.Leu48Arg |