Revel Score:
ENST00000344327 (MANE Select)
0.464
ENST00000532133
0.464
ENST00000348423
0.464
ENST00000360497
0.464
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044795 (AFR)
Genomes Max Group AF
0.00039766 (AFR)
Exomes Max Group AF
0.00039515 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101504541T>C , CM000673.2:g.101504541T>C | GRCh38 |
| NC_000011.9:g.101375272T>C , CM000673.1:g.101375272T>C | GRCh37 |
| NC_000011.8:g.100880482T>C | NCBI36 |
| NG_011476.1:g.84388A>G | |
| NG_011476.2:g.84388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.428A>G MANE Select | ENSP00000340913.3:p.Asn143Ser | |
| ENST00000344327.7:c.428A>G | ENSP00000340913.3:p.Asn143Ser | |
| ENST00000348423.8:c.428A>G | ENSP00000343672.4:p.Asn143Ser | |
| ENST00000360497.4:c.428A>G | ENSP00000353687.4:p.Asn143Ser | |
| ENST00000532133.5:c.428A>G | ENSP00000435574.1:p.Asn143Ser | |
| NM_004621.5:c.428A>G | NP_004612.2:p.Asn143Ser | |
| XM_006718898.2:c.428A>G | XP_006718961.1:p.Asn143Ser | |
| XM_011542968.1:c.263A>G | XP_011541270.1:p.Asn88Ser | |
| XM_011542969.1:c.428A>G | XP_011541271.1:p.Asn143Ser | |
| XM_011542968.3:c.263A>G | XP_011541270.1:p.Asn88Ser | |
| XM_017018221.2:c.428A>G | XP_016873710.1:p.Asn143Ser | |
| XR_001747948.2:n.784A>G | ||
| NM_004621.6:c.428A>G MANE Select | NP_004612.2:p.Asn143Ser |