Revel Score:
ENST00000371817 (MANE Select)
0.777
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00095235 (EAS)
Genomes Max Group AF
0.00006852 (EAS)
Exomes Max Group AF
0.00104091 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134806229C>T , CM000671.2:g.134806229C>T | GRCh38 |
| NC_000009.11:g.137698075C>T , CM000671.1:g.137698075C>T | GRCh37 |
| NC_000009.10:g.136837896C>T | NCBI36 |
| NG_008030.1:g.169424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.3299C>T | ENSP00000360885.4:p.Pro1100Leu | |
| ENST00000371817.8:c.3299C>T MANE Select | ENSP00000360882.3:p.Pro1100Leu | |
| ENST00000371817.7:c.3299C>T | ENSP00000360882.3:p.Pro1100Leu | |
| ENST00000618395.4:c.3299C>T | ENSP00000481360.1:p.Pro1100Leu | |
| NM_000093.4:c.3299C>T | NP_000084.3:p.Pro1100Leu | |
| NM_001278074.1:c.3299C>T | NP_001265003.1:p.Pro1100Leu | |
| XR_929712.1:n.3701C>T | ||
| XR_929713.1:n.3701C>T | ||
| XM_017014266.2:c.3299C>T | XP_016869755.1:p.Pro1100Leu | |
| XR_001746183.1:n.3697C>T | ||
| NM_000093.5:c.3299C>T MANE Select | NP_000084.3:p.Pro1100Leu |