Revel Score:
ENST00000351513 (MANE Select)
0.720
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003483 (NFE)
Genomes Max Group AF
0.00032946 (NFE)
Exomes Max Group AF
0.00034358 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104428045T>C , CM000670.2:g.104428045T>C | GRCh38 |
| NC_000008.10:g.105440273T>C , CM000670.1:g.105440273T>C | GRCh37 |
| NC_000008.9:g.105509449T>C | NCBI36 |
| NG_008840.1:g.44005A>G | |
| NG_008840.2:g.44005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1027A>G MANE Select | ENSP00000276651.2:p.Thr343Ala | |
| ENST00000351513.6:c.1027A>G | ENSP00000276651.2:p.Thr343Ala | |
| NM_001385.2:c.1027A>G | NP_001376.1:p.Thr343Ala | |
| XM_005250818.2:c.1027A>G | XP_005250875.1:p.Thr343Ala | |
| XM_006716518.2:c.868A>G | XP_006716581.1:p.Thr290Ala | |
| XM_011516903.1:c.1027A>G | XP_011515205.1:p.Thr343Ala | |
| XM_011516904.1:c.1027A>G | XP_011515206.1:p.Thr343Ala | |
| XM_005250818.3:c.1027A>G | XP_005250875.1:p.Thr343Ala | |
| XM_006716518.3:c.868A>G | XP_006716581.1:p.Thr290Ala | |
| XM_011516903.3:c.1027A>G | XP_011515205.1:p.Thr343Ala | |
| XM_017013167.2:c.1027A>G | XP_016868656.1:p.Thr343Ala | |
| XM_024447087.1:c.1027A>G | XP_024302855.1:p.Thr343Ala | |
| XR_001745489.1:n.1181A>G | ||
| XR_001745490.2:n.1181A>G | ||
| NM_001385.3:c.1027A>G MANE Select | NP_001376.1:p.Thr343Ala |