Revel Score:
ENST00000526104 (MANE Select)
0.060
ENST00000325207
0.060
ENST00000527696
0.060
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.214331C>T , CM000673.2:g.214331C>T | GRCh38 |
| NC_000011.9:g.214331C>T , CM000673.1:g.214331C>T | GRCh37 |
| NC_000011.8:g.204331C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526104.6:c.1577C>T MANE Select | ENSP00000432008.1:p.Pro526Leu | |
| ENST00000325207.9:c.1595C>T | ENSP00000325941.5:p.Pro532Leu | |
| ENST00000524854.5:c.423C>T | ||
| ENST00000526104.5:c.1577C>T | ENSP00000432008.1:p.Pro526Leu | |
| ENST00000526557.1:n.485C>T | ||
| ENST00000527696.5:c.1559C>T | ENSP00000434833.1:p.Pro520Leu | |
| ENST00000529275.1:c.276C>T | ||
| ENST00000531541.1:n.151C>T | ||
| NM_001286134.1:c.1577C>T | NP_001273063.1:p.Pro526Leu | |
| NM_021932.5:c.1595C>T | NP_068751.4:p.Pro532Leu | |
| XM_005253052.2:c.1589C>T | XP_005253109.1:p.Pro530Leu | |
| XM_011520267.1:c.1631C>T | XP_011518569.1:p.Pro544Leu | |
| XM_011520268.1:c.1619C>T | XP_011518570.1:p.Pro540Leu | |
| XM_011520269.1:c.1613C>T | XP_011518571.1:p.Pro538Leu | |
| XM_011520270.1:c.1607C>T | XP_011518572.1:p.Pro536Leu | |
| XM_011520271.1:c.1601C>T | XP_011518573.1:p.Pro534Leu | |
| XM_011520272.1:c.1289C>T | XP_011518574.1:p.Pro430Leu | |
| XM_005253052.4:c.1589C>T | XP_005253109.1:p.Pro530Leu | |
| XM_017018107.2:c.1247C>T | XP_016873596.1:p.Pro416Leu | |
| NM_001286134.2:c.1577C>T MANE Select | NP_001273063.1:p.Pro526Leu | |
| NM_001386941.1:c.1589C>T | NP_001373870.1:p.Pro530Leu | |
| NM_001386942.1:c.1247C>T | NP_001373871.1:p.Pro416Leu | |
| NM_021932.6:c.1595C>T | NP_068751.4:p.Pro532Leu |