Revel Score:
ENST00000412704
0.462
ENST00000376887
0.462
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95062722C>G , CM000675.2:g.95062722C>G | GRCh38 |
| NC_000013.10:g.95714976C>G , CM000675.1:g.95714976C>G | GRCh37 |
| NC_000013.9:g.94512977C>G | NCBI36 |
| NG_050651.1:g.243725G>C | |
| NG_050651.2:g.243725G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643051.1:c.*973G>C | ENSP00000495513.1:n.*973G>C | |
| ENST00000643842.1:c.*3394G>C | ENSP00000493861.1:n.*3394G>C | |
| ENST00000645237.2:c.3348G>C MANE Select | ENSP00000494609.1:p.Lys1116Asn | |
| ENST00000646439.1:c.3207G>C | ENSP00000494751.1:p.Lys1069Asn | |
| ENST00000376887.8:c.3348G>C | ENSP00000366084.4:p.Lys1116Asn | |
| NM_001301829.1:c.3207G>C | NP_001288758.1:p.Lys1069Asn | |
| NM_005845.4:c.3348G>C | NP_005836.2:p.Lys1116Asn | |
| XM_005254025.2:c.3219G>C | XP_005254082.1:p.Lys1073Asn | |
| XM_006719914.1:c.3258G>C | XP_006719977.1:p.Lys1086Asn | |
| XM_011521047.1:c.2799G>C | XP_011519349.1:p.Lys933Asn | |
| XM_017020319.1:c.3219G>C | XP_016875808.1:p.Lys1073Asn | |
| XM_017020321.1:c.1833G>C | XP_016875810.1:p.Lys611Asn | |
| NM_001301829.2:c.3207G>C | NP_001288758.1:p.Lys1069Asn | |
| NM_005845.5:c.3348G>C MANE Select | NP_005836.2:p.Lys1116Asn |