Linked Data
dbSNP Id:
rs2032229394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981298T>G , CM000672.2:g.94981298T>G | GRCh38 |
| NC_000010.10:g.96741055T>G , CM000672.1:g.96741055T>G | GRCh37 |
| NC_000010.9:g.96731045T>G | NCBI36 |
| NG_008385.1:g.47641T>G | |
| NG_008385.2:g.48141T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1077T>G MANE Select | ENSP00000260682.6:p.Ile359Met | |
| ENST00000643112.1:c.*86T>G | ENSP00000496202.1:n.*86T>G | |
| ENST00000260682.6:c.1077T>G | ENSP00000260682.6:p.Ile359Met | |
| NM_000771.3:c.1077T>G | NP_000762.2:p.Ile359Met | |
| NM_000771.4:c.1077T>G MANE Select | NP_000762.2:p.Ile359Met |