Revel Score:
ENST00000442544 (MANE Select)
0.109
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52340854T>A , CM000680.2:g.52340854T>A | GRCh38 |
| NC_000018.9:g.49867224T>A , CM000680.1:g.49867224T>A | GRCh37 |
| NC_000018.8:g.48121222T>A | NCBI36 |
| NG_013341.1:g.5683T>A | |
| NG_013341.2:g.5683T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.67T>A MANE Select | ENSP00000389140.2:p.Phe23Ile | |
| ENST00000442544.6:c.67T>A | ENSP00000389140.2:p.Phe23Ile | |
| NM_005215.3:c.67T>A | NP_005206.2:p.Phe23Ile | |
| XM_011525843.1:c.67T>A | XP_011524145.1:p.Phe23Ile | |
| XM_011525845.1:c.67T>A | XP_011524147.1:p.Phe23Ile | |
| XM_011525846.1:c.67T>A | XP_011524148.1:p.Phe23Ile | |
| XM_017025568.1:c.67T>A | XP_016881057.1:p.Phe23Ile | |
| XM_017025569.1:c.67T>A | XP_016881058.1:p.Phe23Ile | |
| NM_005215.4:c.67T>A MANE Select | NP_005206.2:p.Phe23Ile |