Revel Score:
ENST00000371712 (MANE Select)
0.540
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001108 (NFE)
Exomes Max Group AF
0.00001176 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136434050C>T , CM000671.2:g.136434050C>T | GRCh38 |
| NC_000009.11:g.139328502C>T , CM000671.1:g.139328502C>T | GRCh37 |
| NC_000009.10:g.138448323C>T | NCBI36 |
| NG_016126.1:g.10755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1021G>A MANE Select | ENSP00000360777.3:p.Gly341Ser | |
| ENST00000674513.1:n.292G>A | ||
| ENST00000675256.1:c.251G>A | ||
| ENST00000676019.1:c.1021G>A | ENSP00000501984.1:p.Gly341Ser | |
| ENST00000371712.3:c.1021G>A | ENSP00000360777.3:p.Gly341Ser | |
| NM_019892.4:c.1021G>A | NP_063945.2:p.Gly341Ser | |
| XM_005266094.2:c.1021G>A | XP_005266151.1:p.Gly341Ser | |
| XR_929828.1:n.1461G>A | ||
| NM_001318502.1:c.1021G>A | NP_001305431.1:p.Gly341Ser | |
| NM_019892.5:c.1021G>A | NP_063945.2:p.Gly341Ser | |
| XM_017014926.1:c.1021G>A | XP_016870415.1:p.Gly341Ser | |
| XR_929828.2:n.1463G>A | ||
| NM_019892.6:c.1021G>A MANE Select | NP_063945.2:p.Gly341Ser | |
| NM_001318502.2:c.1021G>A | NP_001305431.1:p.Gly341Ser |