ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000251595 (MANE Select)
0.747
ENST00000534957
0.747
ENST00000397806
0.747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173295C>G , CM000678.2:g.173295C>G | GRCh38 |
| NC_000016.9:g.223294C>G , CM000678.1:g.223294C>G | GRCh37 |
| NC_000016.8:g.163294C>G | NCBI36 |
| NG_000006.1:g.34158C>G | |
| NG_059186.1:g.1645C>G | |
| NG_059271.1:g.5449C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.266C>G MANE Select | ENSP00000251595.6:p.Ala89Gly | |
| ENST00000251595.10:c.266C>G | ENSP00000251595.6:p.Ala89Gly | |
| ENST00000397806.1:c.170C>G | ENSP00000380908.1:p.Ala57Gly | |
| ENST00000482565.1:n.402C>G | ||
| ENST00000484216.1:n.235C>G | ||
| NM_000517.4:c.266C>G | NP_000508.1:p.Ala89Gly | |
| NM_000517.6:c.266C>G MANE Select | NP_000508.1:p.Ala89Gly |