Revel Score:
ENST00000302850 (MANE Select)
0.128
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00234618 (NFE)
Genomes Max Group AF
0.00180627 (NFE)
Exomes Max Group AF
0.00236393 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7150521G>A , CM000681.2:g.7150521G>A | GRCh38 |
| NC_000019.9:g.7150532G>A , CM000681.1:g.7150532G>A | GRCh37 |
| NC_000019.8:g.7101532G>A | NCBI36 |
| NG_008852.2:g.148480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2243C>T MANE Select | ENSP00000303830.4:p.Ser748Leu | |
| ENST00000302850.9:c.2243C>T | ENSP00000303830.4:p.Ser748Leu | |
| ENST00000341500.9:c.2231+2205C>T | ENSP00000342838.4:n.2231+2205C>T | |
| NM_000208.2:c.2243C>T | NP_000199.2:p.Ser748Leu | |
| NM_000208.3:c.2243C>T | NP_000199.2:p.Ser748Leu | |
| NM_001079817.1:c.2231+2205C>T | NP_001073285.1:n.2231+2205C>T | |
| NM_001079817.2:c.2231+2205C>T | NP_001073285.1:n.2231+2205C>T | |
| XM_011527988.1:c.2321C>T | XP_011526290.1:p.Ser774Leu | |
| XM_011527989.1:c.2309+2205C>T | XP_011526291.1:n.2309+2205C>T | |
| XM_011527988.2:c.2243C>T | XP_011526290.2:p.Ser748Leu | |
| XM_011527989.3:c.2231+2205C>T | XP_011526291.2:n.2231+2205C>T | |
| NM_000208.4:c.2243C>T MANE Select | NP_000199.2:p.Ser748Leu | |
| NM_001079817.3:c.2231+2205C>T | NP_001073285.1:n.2231+2205C>T |