dbSNP:
gnomAD v4:
Joint Max Group AF
0.0000582 (MID)
Exomes Max Group AF
0.00006094 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829570C>T , CM000665.2:g.165829570C>T | GRCh38 |
| NC_000003.11:g.165547358C>T , CM000665.1:g.165547358C>T | GRCh37 |
| NC_000003.10:g.167030052C>T | NCBI36 |
| NG_009031.1:g.12896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1464G>A MANE Select | ENSP00000264381.3:p.Glu488= | |
| ENST00000264381.7:c.1464G>A | ENSP00000264381.3:p.Glu488= | |
| ENST00000479451.5:c.107+7744G>A | ENSP00000418325.1:n.107+7744G>A | |
| ENST00000482958.1:c.1464G>A | ENSP00000419804.1:p.Glu488= | |
| ENST00000488954.1:c.107+7744G>A | ENSP00000418504.1:n.107+7744G>A | |
| ENST00000497011.5:c.1464G>A | ENSP00000419505.1:p.Glu488= | |
| NM_000055.2:c.1464G>A | NP_000046.1:p.Glu488= | |
| XM_005247685.1:c.1587G>A | XP_005247742.1:p.Glu529= | |
| NM_000055.3:c.1464G>A | NP_000046.1:p.Glu488= | |
| NR_137635.1:n.159+7744G>A | ||
| NR_137636.1:n.1631G>A | ||
| NM_000055.4:c.1464G>A MANE Select | NP_000046.1:p.Glu488= | |
| NR_137635.2:n.110+7744G>A | ||
| NR_137636.2:n.1582G>A |