Revel Score:
ENST00000369037 (MANE Select)
0.209
ENST00000453874
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00190907 (NFE)
Genomes Max Group AF
0.00191755 (NFE)
Exomes Max Group AF
0.0018935 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107245583C>T , CM000668.2:g.107245583C>T | GRCh38 |
| NC_000006.11:g.107566787C>T , CM000668.1:g.107566787C>T | GRCh37 |
| NC_000006.10:g.107673480C>T | NCBI36 |
| NG_013033.1:g.218993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369037.9:c.667G>A MANE Select | ENSP00000358033.4:p.Val223Ile | |
| ENST00000369037.8:c.667G>A | ENSP00000358033.4:p.Val223Ile | |
| NM_020381.3:c.667G>A | NP_065114.3:p.Val223Ile | |
| XM_011535956.1:c.667G>A | XP_011534258.1:p.Val223Ile | |
| XM_011535957.1:c.667G>A | XP_011534259.1:p.Val223Ile | |
| XM_011535958.1:c.532G>A | XP_011534260.1:p.Val178Ile | |
| XM_011535959.1:c.667G>A | XP_011534261.1:p.Val223Ile | |
| XM_011535960.1:c.259G>A | XP_011534262.1:p.Val87Ile | |
| XM_011535961.1:c.667G>A | XP_011534263.1:p.Val223Ile | |
| XM_011535962.1:c.259G>A | XP_011534264.1:p.Val87Ile | |
| XM_011535956.3:c.667G>A | XP_011534258.1:p.Val223Ile | |
| XM_011535957.3:c.667G>A | XP_011534259.1:p.Val223Ile | |
| XM_011535958.3:c.532G>A | XP_011534260.1:p.Val178Ile | |
| XM_011535959.3:c.667G>A | XP_011534261.1:p.Val223Ile | |
| XM_011535960.3:c.259G>A | XP_011534262.1:p.Val87Ile | |
| XM_011535961.3:c.667G>A | XP_011534263.1:p.Val223Ile | |
| XM_011535962.2:c.259G>A | XP_011534264.1:p.Val87Ile | |
| XM_017011082.2:c.667G>A | XP_016866571.1:p.Val223Ile | |
| NM_020381.4:c.667G>A MANE Select | NP_065114.3:p.Val223Ile |