Linked Data
dbSNP Id:
rs756616433
ExAC:
8:18258217 T / G
gnomAD v2:
8-18258217-T-G
gnomAD v4:
8-18400707-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400707T>G , CM000670.2:g.18400707T>G | GRCh38 |
| NC_000008.10:g.18258217T>G , CM000670.1:g.18258217T>G | GRCh37 |
| NC_000008.9:g.18302497T>G | NCBI36 |
| NG_012246.1:g.14463T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.704T>G MANE Select | ENSP00000286479.3:p.Val235Gly | |
| ENST00000286479.3:c.704T>G | ENSP00000286479.3:p.Val235Gly | |
| ENST00000520116.1:c.314T>G | ENSP00000428416.1:p.Val105Gly | |
| NM_000015.2:c.704T>G | NP_000006.2:p.Val235Gly | |
| XM_011544358.1:c.704T>G | XP_011542660.1:p.Val235Gly | |
| XM_017012938.1:c.704T>G | XP_016868427.1:p.Val235Gly | |
| NM_000015.3:c.704T>G MANE Select | NP_000006.2:p.Val235Gly |