Linked Data
dbSNP Id:
rs764579294
ExAC:
8:18258285 C / G
gnomAD v2:
8-18258285-C-G
gnomAD v4:
8-18400775-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400775C>G , CM000670.2:g.18400775C>G | GRCh38 |
| NC_000008.10:g.18258285C>G , CM000670.1:g.18258285C>G | GRCh37 |
| NC_000008.9:g.18302565C>G | NCBI36 |
| NG_012246.1:g.14531C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.772C>G MANE Select | ENSP00000286479.3:p.Leu258Val | |
| ENST00000286479.3:c.772C>G | ENSP00000286479.3:p.Leu258Val | |
| ENST00000520116.1:c.382C>G | ENSP00000428416.1:p.Leu128Val | |
| NM_000015.2:c.772C>G | NP_000006.2:p.Leu258Val | |
| XM_011544358.1:c.772C>G | XP_011542660.1:p.Leu258Val | |
| XM_017012938.1:c.772C>G | XP_016868427.1:p.Leu258Val | |
| NM_000015.3:c.772C>G MANE Select | NP_000006.2:p.Leu258Val |