Revel Score:
ENST00000261978 (MANE Select)
0.099
ENST00000556690
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014535 (SAS)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00015338 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74503490T>C , CM000676.2:g.74503490T>C | GRCh38 |
| NC_000014.8:g.74970193T>C , CM000676.1:g.74970193T>C | GRCh37 |
| NC_000014.7:g.74039946T>C | NCBI36 |
| NG_021486.1:g.113842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.4699A>G MANE Select | ENSP00000261978.4:p.Met1567Val | |
| ENST00000261978.8:c.4699A>G | ENSP00000261978.4:p.Met1567Val | |
| ENST00000553939.5:c.4699A>G | ENSP00000452110.1:p.Met1567Val | |
| ENST00000556690.5:c.4567A>G | ENSP00000451477.1:p.Met1523Val | |
| NM_000428.2:c.4699A>G | NP_000419.1:p.Met1567Val | |
| XM_011536765.1:c.4318A>G | XP_011535067.1:p.Met1440Val | |
| XM_011536766.1:c.4240A>G | XP_011535068.1:p.Met1414Val | |
| XM_011536767.1:c.4216A>G | XP_011535069.1:p.Met1406Val | |
| XM_011536765.2:c.4318A>G | XP_011535067.1:p.Met1440Val | |
| NM_000428.3:c.4699A>G MANE Select | NP_000419.1:p.Met1567Val |