Linked Data
dbSNP Id:
rs1141370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226792C>A , CM000673.2:g.5226792C>A | GRCh38 |
| NC_000011.9:g.5248022C>A , CM000673.1:g.5248022C>A | GRCh37 |
| NC_000011.8:g.5204598C>A | NCBI36 |
| NG_000007.3:g.70824G>T | |
| NG_059281.1:g.5280G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.100G>T | ENSP00000494175.1:p.Val34Leu | |
| ENST00000335295.4:c.100G>T MANE Select | ENSP00000333994.3:p.Val34Leu | |
| ENST00000380315.2:c.100G>T | ENSP00000369671.2:p.Val34Leu | |
| ENST00000475226.1:n.32G>T | ||
| ENST00000485743.1:n.151G>T | ||
| ENST00000633227.1:c.84G>T | ENSP00000488004.1:p.Trp28Cys | |
| NM_000518.4:c.100G>T | NP_000509.1:p.Val34Leu | |
| NM_000518.5:c.100G>T MANE Select | NP_000509.1:p.Val34Leu |