ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44666784C>T , CM000669.2:g.44666784C>T | GRCh38 |
| NC_000007.13:g.44706383C>T , CM000669.1:g.44706383C>T | GRCh37 |
| NC_000007.12:g.44672908C>T | NCBI36 |
| NG_023260.1:g.65263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447398.6:c.599C>T | ENSP00000388183.1:p.Pro200Leu | |
| ENST00000222673.6:c.566C>T MANE Select | ENSP00000222673.5:p.Pro189Leu | |
| ENST00000222673.5:c.566C>T | ENSP00000222673.5:p.Pro189Leu | |
| ENST00000419661.5:c.566C>T | ENSP00000411830.1:p.Pro189Leu | |
| ENST00000439616.6:c.271C>T | ENSP00000398576.2:p.Pro91Ser | |
| ENST00000443864.6:c.566C>T | ENSP00000388084.2:p.Pro189Leu | |
| ENST00000444676.5:c.611C>T | ENSP00000414662.1:p.Pro204Leu | |
| ENST00000447398.5:c.599C>T | ENSP00000388183.1:p.Pro200Leu | |
| ENST00000449767.5:c.554C>T | ENSP00000392878.1:p.Pro185Leu | |
| ENST00000459672.5:n.164C>T | ||
| ENST00000631326.2:c.566C>T | ENSP00000486854.1:p.Pro189Leu | |
| NM_001003941.2:c.566C>T | NP_001003941.1:p.Pro189Leu | |
| NM_001165036.1:c.554C>T | NP_001158508.1:p.Pro185Leu | |
| NM_002541.3:c.566C>T | NP_002532.2:p.Pro189Leu | |
| XM_005249759.3:c.611C>T | XP_005249816.1:p.Pro204Leu | |
| XM_005249761.2:c.599C>T | XP_005249818.1:p.Pro200Leu | |
| XM_011515408.1:c.611C>T | XP_011513710.1:p.Pro204Leu | |
| NM_001363523.1:c.599C>T | NP_001350452.1:p.Pro200Leu | |
| XM_005249759.5:c.611C>T | XP_005249816.1:p.Pro204Leu | |
| XM_011515408.2:c.611C>T | XP_011513710.1:p.Pro204Leu | |
| XM_024446783.1:c.106C>T | XP_024302551.1:p.Pro36Ser | |
| NM_002541.4:c.566C>T MANE Select | NP_002532.2:p.Pro189Leu | |
| NM_001003941.3:c.566C>T | NP_001003941.1:p.Pro189Leu | |
| NM_001165036.2:c.554C>T | NP_001158508.1:p.Pro185Leu | |
| NM_001363523.2:c.599C>T | NP_001350452.1:p.Pro200Leu |