Revel Score:
ENST00000324071 (MANE Select)
0.126
ENST00000330446
0.126
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41004158G>C , CM000681.2:g.41004158G>C | GRCh38 |
| NC_000019.9:g.41510063G>C , CM000681.1:g.41510063G>C | GRCh37 |
| NC_000019.8:g.46201903G>C | NCBI36 |
| NG_007929.1:g.17860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.329G>C MANE Select | ENSP00000324648.2:p.Gly110Ala | |
| ENST00000598834.2:c.231G>C | ||
| ENST00000324071.8:c.329G>C | ENSP00000324648.2:p.Gly110Ala | |
| ENST00000593831.1:c.101G>C | ENSP00000470582.1:p.Gly34Ala | |
| ENST00000598834.1:n.231G>C | ||
| NM_000767.4:c.329G>C | NP_000758.1:p.Gly110Ala | |
| XM_005258569.3:c.329G>C | XP_005258626.1:p.Gly110Ala | |
| XM_006723050.2:c.329G>C | XP_006723113.1:p.Gly110Ala | |
| XM_011526546.1:c.329G>C | XP_011524848.1:p.Gly110Ala | |
| XM_011526547.1:c.329G>C | XP_011524849.1:p.Gly110Ala | |
| XM_011526548.1:c.329G>C | XP_011524850.1:p.Gly110Ala | |
| XM_011526550.1:c.209G>C | XP_011524852.1:p.Gly70Ala | |
| NM_000767.5:c.329G>C MANE Select | NP_000758.1:p.Gly110Ala |