Revel Score:
ENST00000378802 (MANE Select)
0.857
ENST00000274118
0.857
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186201329C>T , CM000666.2:g.186201329C>T | GRCh38 |
| NC_000004.11:g.187122483C>T , CM000666.1:g.187122483C>T | GRCh37 |
| NC_000004.10:g.187359477C>T | NCBI36 |
| NG_007965.1:g.14810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.974C>T MANE Select | ENSP00000368079.4:p.Thr325Ile | |
| ENST00000378802.4:c.974C>T | ENSP00000368079.4:p.Thr325Ile | |
| ENST00000507209.5:n.1815C>T | ||
| NM_207352.3:c.974C>T | NP_997235.3:p.Thr325Ile | |
| XM_005262935.2:c.974C>T | XP_005262992.1:p.Thr325Ile | |
| XM_006714184.2:c.578C>T | XP_006714247.1:p.Thr193Ile | |
| XM_005262935.4:c.974C>T | XP_005262992.1:p.Thr325Ile | |
| XM_017008037.1:c.578C>T | XP_016863526.1:p.Thr193Ile | |
| NM_207352.4:c.974C>T MANE Select | NP_997235.3:p.Thr325Ile |