Revel Score:
ENST00000457016
0.559
ENST00000257430 (MANE Select)
0.559
ENST00000508376
0.559
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842622C>T , CM000667.2:g.112842622C>T | GRCh38 |
| NC_000005.9:g.112178319C>T , CM000667.1:g.112178319C>T | GRCh37 |
| NC_000005.8:g.112206218C>T | NCBI36 |
| NG_008481.4:g.155102C>T , LRG_130:g.155102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7082C>T | ENSP00000473355.2:p.Ser2361Phe | |
| ENST00000505350.2:c.*7034C>T | ENSP00000481752.1:n.*7034C>T | |
| ENST00000507379.6:c.6974C>T | ENSP00000423224.2:p.Ser2325Phe | |
| ENST00000509732.6:c.7028C>T | ENSP00000426541.2:p.Ser2343Phe | |
| ENST00000512211.7:c.7028C>T | ENSP00000423828.3:p.Ser2343Phe | |
| ENST00000257430.9:c.7028C>T MANE Select | ENSP00000257430.4:p.Ser2343Phe | |
| ENST00000257430.8:c.7028C>T | ENSP00000257430.4:p.Ser2343Phe | |
| ENST00000508376.6:c.7028C>T | ENSP00000427089.2:p.Ser2343Phe | |
| ENST00000508624.5:c.*6350C>T | ENSP00000424265.1:n.*6350C>T | |
| ENST00000520401.1:c.230+13650C>T | ||
| NM_000038.5:c.7028C>T | NP_000029.2:p.Ser2343Phe | |
| NM_001127510.2:c.7028C>T | NP_001120982.1:p.Ser2343Phe | |
| NM_001127511.2:c.6974C>T | NP_001120983.2:p.Ser2325Phe | |
| NM_001354895.1:c.7028C>T | NP_001341824.1:p.Ser2343Phe | |
| NM_001354896.1:c.7082C>T | NP_001341825.1:p.Ser2361Phe | |
| NM_001354897.1:c.7058C>T | NP_001341826.1:p.Ser2353Phe | |
| NM_001354898.1:c.6953C>T | NP_001341827.1:p.Ser2318Phe | |
| NM_001354899.1:c.6944C>T | NP_001341828.1:p.Ser2315Phe | |
| NM_001354900.1:c.6905C>T | NP_001341829.1:p.Ser2302Phe | |
| NM_001354901.1:c.6851C>T | NP_001341830.1:p.Ser2284Phe | |
| NM_001354902.1:c.6755C>T | NP_001341831.1:p.Ser2252Phe | |
| NM_001354903.1:c.6725C>T | NP_001341832.1:p.Ser2242Phe | |
| NM_001354904.1:c.6650C>T | NP_001341833.1:p.Ser2217Phe | |
| NM_001354905.1:c.6548C>T | NP_001341834.1:p.Ser2183Phe | |
| NM_001354906.1:c.6179C>T | NP_001341835.1:p.Ser2060Phe | |
| NM_000038.6:c.7028C>T MANE Select | NP_000029.2:p.Ser2343Phe | |
| NM_001127510.3:c.7028C>T | NP_001120982.1:p.Ser2343Phe | |
| NM_001127511.3:c.6974C>T | NP_001120983.2:p.Ser2325Phe | |
| NM_001354895.2:c.7028C>T | NP_001341824.1:p.Ser2343Phe | |
| NM_001354896.2:c.7082C>T | NP_001341825.1:p.Ser2361Phe | |
| NM_001354897.2:c.7058C>T | NP_001341826.1:p.Ser2353Phe | |
| NM_001354898.2:c.6953C>T | NP_001341827.1:p.Ser2318Phe | |
| NM_001354899.2:c.6944C>T | NP_001341828.1:p.Ser2315Phe | |
| NM_001354900.2:c.6905C>T | NP_001341829.1:p.Ser2302Phe | |
| NM_001354901.2:c.6851C>T | NP_001341830.1:p.Ser2284Phe | |
| NM_001354902.2:c.6755C>T | NP_001341831.1:p.Ser2252Phe | |
| NM_001354903.2:c.6725C>T | NP_001341832.1:p.Ser2242Phe | |
| NM_001354904.2:c.6650C>T | NP_001341833.1:p.Ser2217Phe | |
| NM_001354905.2:c.6548C>T | NP_001341834.1:p.Ser2183Phe | |
| NM_001354906.2:c.6179C>T | NP_001341835.1:p.Ser2060Phe |