Revel Score:
ENST00000262418 (MANE Select)
0.649
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44253361T>C , CM000679.2:g.44253361T>C | GRCh38 |
| NC_000017.10:g.42330729T>C , CM000679.1:g.42330729T>C | GRCh37 |
| NC_000017.9:g.39686255T>C | NCBI36 |
| NG_007498.1:g.19774A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2068A>G MANE Select | ENSP00000262418.6:p.Ser690Gly | |
| ENST00000262418.10:c.2068A>G | ENSP00000262418.6:p.Ser690Gly | |
| ENST00000399246.3:c.970A>G | ENSP00000382190.3:p.Ser324Gly | |
| NM_000342.3:c.2068A>G | NP_000333.1:p.Ser690Gly | |
| XM_005257593.3:c.1873A>G | XP_005257650.1:p.Ser625Gly | |
| XM_011525129.1:c.1978A>G | XP_011523431.1:p.Ser660Gly | |
| XM_011525130.1:c.2068A>G | XP_011523432.1:p.Ser690Gly | |
| XM_005257593.5:c.1873A>G | XP_005257650.1:p.Ser625Gly | |
| XM_011525129.2:c.1978A>G | XP_011523431.1:p.Ser660Gly | |
| NM_000342.4:c.2068A>G MANE Select | NP_000333.1:p.Ser690Gly |