Revel Score:
ENST00000371872
0.925
ENST00000439388 (MANE Select)
0.925
ENST00000422262
0.925
ENST00000427237
0.925
ENST00000539227
0.925
ENST00000535281
0.925
ENST00000371867
0.925
ENST00000393050
0.925
ENST00000298628
0.925
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008906 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00009115 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133729820G>A , CM000671.2:g.133729820G>A | GRCh38 |
| NC_000009.11:g.136594942G>A , CM000671.1:g.136594942G>A | GRCh37 |
| NC_000009.10:g.135584763G>A | NCBI36 |
| NG_008987.1:g.15136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.860C>T MANE Select | ENSP00000403084.1:p.Pro287Leu | |
| ENST00000298628.6:c.860C>T | ENSP00000298628.5:p.Pro287Leu | |
| ENST00000371867.5:c.593C>T | ENSP00000360933.1:p.Pro198Leu | |
| ENST00000371872.8:c.860C>T | ENSP00000360938.4:p.Pro287Leu | |
| ENST00000422262.6:c.20C>T | ENSP00000415537.3:p.Pro7Leu | |
| ENST00000427237.6:c.860C>T | ENSP00000394210.2:p.Pro287Leu | |
| ENST00000439388.5:c.860C>T | ENSP00000403084.1:p.Pro287Leu | |
| ENST00000616662.4:c.860C>T | ENSP00000484683.1:p.Pro287Leu | |
| NM_001134707.1:c.860C>T | NP_001128179.1:p.Pro287Leu | |
| NM_007101.3:c.860C>T | NP_009032.2:p.Pro287Leu | |
| XM_006716990.2:c.860C>T | XP_006717053.1:p.Pro287Leu | |
| XM_011518333.1:c.860C>T | XP_011516635.1:p.Pro287Leu | |
| XR_929726.1:n.1027C>T | ||
| XR_929727.1:n.1027C>T | ||
| XR_929728.1:n.1027C>T | ||
| XM_017014367.1:c.860C>T | XP_016869856.1:p.Pro287Leu | |
| XM_017014368.1:c.860C>T | XP_016869857.1:p.Pro287Leu | |
| XR_001746213.1:n.1156C>T | ||
| XR_001746214.1:n.2339C>T | ||
| XR_001746215.1:n.1158C>T | ||
| XR_001746216.1:n.1156C>T | ||
| XR_001746217.1:n.1156C>T | ||
| XR_001746218.1:n.1156C>T | ||
| XR_929726.2:n.1027C>T | ||
| NM_001134707.2:c.860C>T MANE Select | NP_001128179.1:p.Pro287Leu | |
| NM_007101.4:c.860C>T | NP_009032.2:p.Pro287Leu |