Revel Score:
ENST00000375300
0.066
ENST00000292055
0.066
ENST00000375288
0.066
ENST00000542607
0.066
ENST00000434315
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116857914G>A , CM000673.2:g.116857914G>A | GRCh38 |
| NC_000011.9:g.116728630G>A , CM000673.1:g.116728630G>A | GRCh37 |
| NC_000011.8:g.116233840G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445177.6:c.3551C>T MANE Select | ENSP00000391295.2:p.Pro1184Leu | |
| ENST00000375300.6:c.3407C>T | ENSP00000364449.1:p.Pro1136Leu | |
| ENST00000375300.5:c.3407C>T | ENSP00000364449.1:p.Pro1136Leu | |
| ENST00000415541.5:c.3207C>T | ENSP00000392761.1:n.3207C>T | |
| ENST00000445177.5:c.3531C>T | ||
| ENST00000446921.6:c.3227C>T | ENSP00000390442.2:p.Pro1076Leu | |
| ENST00000465421.5:n.2669C>T | ||
| ENST00000480468.1:n.1237C>T | ||
| ENST00000488337.5:n.1420C>T | ||
| NM_001281748.1:c.2750C>T | NP_001268677.1:p.Pro917Leu | |
| NM_001281749.1:c.3227C>T | NP_001268678.1:p.Pro1076Leu | |
| NM_025164.4:c.3407C>T | NP_079440.3:p.Pro1136Leu | |
| XM_005271481.2:c.3551C>T | XP_005271538.1:p.Pro1184Leu | |
| XM_005271482.3:c.3407C>T | XP_005271539.2:p.Pro1136Leu | |
| XM_005271484.3:c.3227C>T | XP_005271541.2:p.Pro1076Leu | |
| XM_005271485.2:c.1754C>T | XP_005271542.1:p.Pro585Leu | |
| XM_005271486.1:c.1610C>T | XP_005271543.1:p.Pro537Leu | |
| XM_011542721.1:c.3551C>T | XP_011541023.1:p.Pro1184Leu | |
| XM_011542722.1:c.3371C>T | XP_011541024.1:p.Pro1124Leu | |
| XM_011542723.1:c.3074C>T | XP_011541025.1:p.Pro1025Leu | |
| XM_011542724.1:c.3074C>T | XP_011541026.1:p.Pro1025Leu | |
| XM_011542725.1:c.3074C>T | XP_011541027.1:p.Pro1025Leu | |
| NM_001281748.2:c.2750C>T | NP_001268677.1:p.Pro917Leu | |
| NM_001281749.2:c.3227C>T | NP_001268678.1:p.Pro1076Leu | |
| NM_001366686.1:c.3551C>T | NP_001353615.1:p.Pro1184Leu | |
| NM_025164.5:c.3407C>T | NP_079440.3:p.Pro1136Leu | |
| XM_005271482.4:c.3407C>T | XP_005271539.2:p.Pro1136Leu | |
| XM_005271485.3:c.1754C>T | XP_005271542.1:p.Pro585Leu | |
| XM_011542723.2:c.3074C>T | XP_011541025.1:p.Pro1025Leu | |
| XM_011542724.2:c.3074C>T | XP_011541026.1:p.Pro1025Leu | |
| XM_011542725.2:c.3074C>T | XP_011541027.1:p.Pro1025Leu | |
| XM_017017424.1:c.3083C>T | XP_016872913.1:p.Pro1028Leu | |
| XM_017017425.1:c.3074C>T | XP_016872914.1:p.Pro1025Leu | |
| XM_017017426.1:c.3074C>T | XP_016872915.1:p.Pro1025Leu | |
| XM_017017427.1:c.1610C>T | XP_016872916.1:p.Pro537Leu | |
| NM_001281748.3:c.2750C>T | NP_001268677.1:p.Pro917Leu | |
| NM_001281749.3:c.3227C>T | NP_001268678.1:p.Pro1076Leu | |
| NM_001366686.2:c.3551C>T | NP_001353615.1:p.Pro1184Leu | |
| NM_025164.6:c.3407C>T | NP_079440.3:p.Pro1136Leu | |
| NM_001366686.3:c.3551C>T MANE Select | NP_001353615.1:p.Pro1184Leu |