dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
ENST00000264381 (MANE Select)
0.110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829574G>C , CM000665.2:g.165829574G>C | GRCh38 |
| NC_000003.11:g.165547362G>C , CM000665.1:g.165547362G>C | GRCh37 |
| NC_000003.10:g.167030056G>C | NCBI36 |
| NG_009031.1:g.12892C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1460C>G MANE Select | ENSP00000264381.3:p.Ala487Gly | |
| ENST00000264381.7:c.1460C>G | ENSP00000264381.3:p.Ala487Gly | |
| ENST00000479451.5:c.107+7740C>G | ENSP00000418325.1:n.107+7740C>G | |
| ENST00000482958.1:c.1460C>G | ENSP00000419804.1:p.Ala487Gly | |
| ENST00000488954.1:c.107+7740C>G | ENSP00000418504.1:n.107+7740C>G | |
| ENST00000497011.5:c.1460C>G | ENSP00000419505.1:p.Ala487Gly | |
| NM_000055.2:c.1460C>G | NP_000046.1:p.Ala487Gly | |
| XM_005247685.1:c.1583C>G | XP_005247742.1:p.Ala528Gly | |
| NM_000055.3:c.1460C>G | NP_000046.1:p.Ala487Gly | |
| NR_137635.1:n.159+7740C>G | ||
| NR_137636.1:n.1627C>G | ||
| NM_000055.4:c.1460C>G MANE Select | NP_000046.1:p.Ala487Gly | |
| NR_137635.2:n.110+7740C>G | ||
| NR_137636.2:n.1578C>G |