Revel Score:
ENST00000260947 (MANE Select)
0.135
ENST00000449967
0.135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780797C>G , CM000664.2:g.214780797C>G | GRCh38 |
| NC_000002.11:g.215645521C>G , CM000664.1:g.215645521C>G | GRCh37 |
| NC_000002.10:g.215353766C>G | NCBI36 |
| NG_012047.2:g.33908G>C | |
| NG_012047.3:g.33915G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1077G>C MANE Select | ENSP00000260947.4:p.Leu359Phe | |
| ENST00000421162.2:c.215+16264G>C | ENSP00000392245.2:n.215+16264G>C | |
| ENST00000613192.2:c.158+28615G>C | ENSP00000483275.2:n.158+28615G>C | |
| ENST00000613374.5:c.159-28242G>C | ENSP00000484464.1:n.159-28242G>C | |
| ENST00000613706.5:c.906+171G>C | ENSP00000484976.2:n.906+171G>C | |
| ENST00000617164.5:c.1020G>C | ENSP00000480470.1:p.Leu340Phe | |
| ENST00000619009.5:c.364+11500G>C | ENSP00000482293.1:n.364+11500G>C | |
| ENST00000650978.1:c.919G>C | ||
| ENST00000260947.8:c.1077G>C | ENSP00000260947.4:p.Leu359Phe | |
| ENST00000421162.1:c.215+16264G>C | ENSP00000392245.1:n.215+16264G>C | |
| ENST00000455743.5:c.*697G>C | ENSP00000412186.1:n.*697G>C | |
| ENST00000613192.1:c.73+28615G>C | ENSP00000483275.1:n.73+28615G>C | |
| ENST00000613374.4:c.159-28242G>C | ENSP00000484464.1:n.159-28242G>C | |
| ENST00000613706.4:c.215+16264G>C | ENSP00000484976.1:n.215+16264G>C | |
| ENST00000617164.4:c.1020G>C | ENSP00000480470.1:p.Leu340Phe | |
| ENST00000619009.4:c.364+11500G>C | ENSP00000482293.1:n.364+11500G>C | |
| ENST00000620057.4:c.365-11485G>C | ENSP00000481988.1:n.365-11485G>C | |
| NM_000465.3:c.1077G>C | NP_000456.2:p.Leu359Phe | |
| NM_001282543.1:c.1020G>C | NP_001269472.1:p.Leu340Phe | |
| NM_001282545.1:c.215+16264G>C | NP_001269474.1:n.215+16264G>C | |
| NM_001282548.1:c.159-28242G>C | NP_001269477.1:n.159-28242G>C | |
| NM_001282549.1:c.364+11500G>C | NP_001269478.1:n.364+11500G>C | |
| NR_104212.1:n.1070G>C | ||
| NR_104215.1:n.1013G>C | ||
| NR_104216.1:n.507-11485G>C | ||
| XM_011511567.1:c.1023G>C | XP_011509869.1:p.Leu341Phe | |
| XM_011511568.1:c.1077G>C | XP_011509870.1:p.Leu359Phe | |
| XM_017004613.1:c.1176G>C | XP_016860102.1:p.Leu392Phe | |
| XM_017004614.1:c.1176G>C | XP_016860103.1:p.Leu392Phe | |
| XR_002959322.1:n.1267G>C | ||
| NM_000465.4:c.1077G>C MANE Select | NP_000456.2:p.Leu359Phe | |
| NM_001282543.2:c.1020G>C | NP_001269472.1:p.Leu340Phe | |
| NM_001282545.2:c.215+16264G>C | NP_001269474.1:n.215+16264G>C | |
| NM_001282548.2:c.159-28242G>C | NP_001269477.1:n.159-28242G>C | |
| NM_001282549.2:c.364+11500G>C | NP_001269478.1:n.364+11500G>C | |
| NR_104212.2:n.1042G>C | ||
| NR_104215.2:n.985G>C | ||
| NR_104216.2:n.479-11485G>C |