Revel Score:
ENST00000449082 (MANE Select)
0.377
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011209 (AFR)
Genomes Max Group AF
0.00007893 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38712340C>A , CM000665.2:g.38712340C>A | GRCh38 |
| NC_000003.11:g.38753831C>A , CM000665.1:g.38753831C>A | GRCh37 |
| NC_000003.10:g.38728835C>A | NCBI36 |
| NG_031891.2:g.86671G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3910G>T MANE Select | ENSP00000390600.2:p.Ala1304Ser | |
| ENST00000643924.1:c.3907G>T | ENSP00000495595.1:p.Ala1303Ser | |
| ENST00000655275.1:c.3934G>T | ENSP00000499510.1:p.Ala1312Ser | |
| ENST00000449082.2:c.3910G>T | ENSP00000390600.2:p.Ala1304Ser | |
| NM_001293306.2:c.3907G>T | NP_001280235.2:p.Ala1303Ser | |
| NM_001293307.2:c.3616G>T | NP_001280236.2:p.Ala1206Ser | |
| NM_006514.3:c.3910G>T | NP_006505.3:p.Ala1304Ser | |
| XM_005265371.2:c.3919G>T | XP_005265428.1:p.Ala1307Ser | |
| XM_011533993.1:c.3916G>T | XP_011532295.1:p.Ala1306Ser | |
| XM_011533994.1:c.3625G>T | XP_011532296.1:p.Ala1209Ser | |
| XM_005265371.3:c.3919G>T | XP_005265428.1:p.Ala1307Ser | |
| XM_011533993.2:c.3916G>T | XP_011532295.1:p.Ala1306Ser | |
| XM_011533994.2:c.3625G>T | XP_011532296.1:p.Ala1209Ser | |
| NM_006514.4:c.3910G>T MANE Select | NP_006505.4:p.Ala1304Ser |