Linked Data
dbSNP Id:
rs137852554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.634734C>G , CM000685.2:g.634734C>G | GRCh38 |
| NC_000023.10:g.595469C>G , CM000685.1:g.595469C>G | GRCh37 |
| NC_000023.9:g.515469C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686671.1:c.394C>G MANE Select | ENSP00000508521.1:p.Leu132Val | |
| ENST00000334060.8:c.394C>G | ENSP00000335505.3:p.Leu132Val | |
| ENST00000381575.6:c.394C>G | ENSP00000370987.1:p.Leu132Val | |
| ENST00000381578.6:c.394C>G | ENSP00000370990.1:p.Leu132Val | |
| ENST00000554971.6:c.394C>G | ENSP00000452016.1:p.Leu132Val |