Revel Score:
ENST00000261590 (MANE Select)
0.050
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531035G>T , CM000680.2:g.31531035G>T | GRCh38 |
| NC_000018.9:g.29110998G>T , CM000680.1:g.29110998G>T | GRCh37 |
| NC_000018.8:g.27364996G>T | NCBI36 |
| NG_007072.3:g.37794G>T , LRG_397:g.37794G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.894G>T | ||
| ENST00000683614.1:c.894G>T | ||
| ENST00000261590.13:c.1063G>T MANE Select | ENSP00000261590.8:p.Ala355Ser | |
| ENST00000261590.12:c.1063G>T | ENSP00000261590.8:p.Ala355Ser | |
| NM_001943.3:c.1063G>T , LRG_397t1:c.1063G>T | NP_001934.2:p.Ala355Ser | |
| NM_001943.4:c.1063G>T | NP_001934.2:p.Ala355Ser | |
| XM_024451095.1:c.529G>T | XP_024306863.1:p.Ala177Ser | |
| NM_001943.5:c.1063G>T MANE Select | NP_001934.2:p.Ala355Ser |