Revel Score:
ENST00000354638 (MANE Select)
0.976
ENST00000353809
0.976
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048397 (AFR)
Genomes Max Group AF
0.00029988 (AFR)
Exomes Max Group AF
0.00059414 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27871170G>A , CM000677.2:g.27871170G>A | GRCh38 |
| NC_000015.9:g.28116316G>A , CM000677.1:g.28116316G>A | GRCh37 |
| NC_000015.8:g.25789911G>A | NCBI36 |
| NG_009846.1:g.233143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2228C>T MANE Select | ENSP00000346659.3:p.Pro743Leu | |
| ENST00000353809.9:c.2156C>T | ENSP00000261276.8:p.Pro719Leu | |
| ENST00000354638.7:c.2228C>T | ENSP00000346659.3:p.Pro743Leu | |
| NM_000275.2:c.2228C>T | NP_000266.2:p.Pro743Leu | |
| NM_001300984.1:c.2156C>T | NP_001287913.1:p.Pro719Leu | |
| XM_011521639.1:c.2252C>T | XP_011519941.1:p.Pro751Leu | |
| XM_011521640.1:c.2228C>T | XP_011519942.1:p.Pro743Leu | |
| XM_011521641.1:c.2252C>T | XP_011519943.1:p.Pro751Leu | |
| XM_011521642.1:c.2180C>T | XP_011519944.1:p.Pro727Leu | |
| XM_011521643.1:c.2180C>T | XP_011519945.1:p.Pro727Leu | |
| XM_011521644.1:c.2114C>T | XP_011519946.1:p.Pro705Leu | |
| XM_011521645.1:c.2104-19695C>T | XP_011519947.1:n.2104-19695C>T | |
| XM_011521640.2:c.2228C>T | XP_011519942.1:p.Pro743Leu | |
| XM_017022255.1:c.2252C>T | XP_016877744.1:p.Pro751Leu | |
| XM_017022256.1:c.2252C>T | XP_016877745.1:p.Pro751Leu | |
| XM_017022257.1:c.2180C>T | XP_016877746.1:p.Pro727Leu | |
| XM_017022258.1:c.2252C>T | XP_016877747.1:p.Pro751Leu | |
| XM_017022259.1:c.2180C>T | XP_016877748.1:p.Pro727Leu | |
| XM_017022260.1:c.2114C>T | XP_016877749.1:p.Pro705Leu | |
| XM_017022261.1:c.2057C>T | XP_016877750.1:p.Pro686Leu | |
| XM_017022262.1:c.2252C>T | XP_016877751.1:p.Pro751Leu | |
| XM_017022263.1:c.2104-19695C>T | XP_016877752.1:n.2104-19695C>T | |
| XM_017022264.1:c.2104-19695C>T | XP_016877753.1:n.2104-19695C>T | |
| NM_000275.3:c.2228C>T MANE Select | NP_000266.2:p.Pro743Leu | |
| NM_001300984.2:c.2156C>T | NP_001287913.1:p.Pro719Leu |