Linked Data
dbSNP Id:
rs1752399646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028880G>C , CM000667.2:g.135028880G>C | GRCh38 |
| NC_000005.9:g.134364570G>C , CM000667.1:g.134364570G>C | GRCh37 |
| NC_000005.8:g.134392469G>C | NCBI36 |
| NG_012114.1:g.10395C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.844C>G MANE Select | ENSP00000265340.6:p.Leu282Val | |
| ENST00000265340.11:c.844C>G | ENSP00000265340.6:p.Leu282Val | |
| ENST00000506438.5:c.844C>G | ENSP00000427542.1:p.Leu282Val | |
| NM_002653.4:c.844C>G | NP_002644.4:p.Leu282Val | |
| NM_002653.5:c.844C>G MANE Select | NP_002644.4:p.Leu282Val |