Revel Score:
ENST00000343257 (MANE Select)
0.971
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332755T>C , CM000669.2:g.143332755T>C | GRCh38 |
| NC_000007.13:g.143029848T>C , CM000669.1:g.143029848T>C | GRCh37 |
| NC_000007.12:g.142739970T>C | NCBI36 |
| NG_009815.1:g.21630T>C | |
| NG_009815.2:g.21630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1283T>C | ENSP00000498052.2:p.Phe428Ser | |
| ENST00000343257.7:c.1283T>C MANE Select | ENSP00000339867.2:p.Phe428Ser | |
| ENST00000432192.6:c.1107T>C | ||
| ENST00000343257.6:c.1283T>C | ENSP00000339867.2:p.Phe428Ser | |
| NM_000083.2:c.1283T>C | NP_000074.2:p.Phe428Ser | |
| NR_046453.1:n.1341+252T>C | ||
| XM_011515781.1:c.1307T>C | XP_011514083.1:p.Phe436Ser | |
| XM_011515782.1:c.29T>C | XP_011514084.1:p.Phe10Ser | |
| XM_011515782.2:c.29T>C | XP_011514084.1:p.Phe10Ser | |
| XM_017011739.1:c.857T>C | XP_016867228.1:p.Phe286Ser | |
| XM_017011740.1:c.833T>C | XP_016867229.1:p.Phe278Ser | |
| NM_000083.3:c.1283T>C MANE Select | NP_000074.3:p.Phe428Ser | |
| NR_046453.2:n.1356+252T>C |