Linked Data
dbSNP Id:
rs281864582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225725A>G , CM000673.2:g.5225725A>G | GRCh38 |
| NC_000011.9:g.5246955A>G , CM000673.1:g.5246955A>G | GRCh37 |
| NC_000011.8:g.5203531A>G | NCBI36 |
| NG_000007.3:g.71891T>C | |
| NG_059281.1:g.6347T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.317T>C | ENSP00000494175.1:p.Leu106Pro | |
| ENST00000335295.4:c.317T>C MANE Select | ENSP00000333994.3:p.Leu106Pro | |
| ENST00000475226.1:n.249T>C | ||
| ENST00000633227.1:c.*133T>C | ENSP00000488004.1:n.*133T>C | |
| NM_000518.4:c.317T>C | NP_000509.1:p.Leu106Pro | |
| NM_000518.5:c.317T>C MANE Select | NP_000509.1:p.Leu106Pro |