Revel Score:
ENST00000548169
0.066
ENST00000552636
0.386
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110292103T>C , CM000674.2:g.110292103T>C | GRCh38 |
| NC_000012.11:g.110729908T>C , CM000674.1:g.110729908T>C | GRCh37 |
| NC_000012.10:g.109214291T>C | NCBI36 |
| NG_007097.2:g.15477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552636.2:c.-73T>C | ENSP00000447406.2:n.-73T>C | |
| ENST00000539276.7:c.303T>C MANE Select | ENSP00000440045.2:p.Asn101= | |
| ENST00000308664.10:c.303T>C | ENSP00000311186.6:p.Asn101= | |
| ENST00000377685.9:c.*143T>C | ENSP00000366913.4:n.*143T>C | |
| ENST00000539276.6:c.303T>C | ENSP00000440045.2:p.Asn101= | |
| ENST00000548169.2:c.55T>C | ||
| ENST00000552636.1:c.2T>C | ENSP00000447406.1:p.Met1Thr | |
| NM_001681.3:c.303T>C | NP_001672.1:p.Asn101= | |
| NM_170665.3:c.303T>C | NP_733765.1:p.Asn101= | |
| XM_005253888.1:c.303T>C | XP_005253945.1:p.Asn101= | |
| XM_011538402.1:c.303T>C | XP_011536704.1:p.Asn101= | |
| XM_011538403.1:c.303T>C | XP_011536705.1:p.Asn101= | |
| XR_243009.1:n.309T>C | ||
| XM_005253888.3:c.303T>C | XP_005253945.1:p.Asn101= | |
| XM_011538402.3:c.303T>C | XP_011536704.1:p.Asn101= | |
| XR_002957329.1:n.309T>C | ||
| XR_243009.3:n.309T>C | ||
| NM_170665.4:c.303T>C MANE Select | NP_733765.1:p.Asn101= | |
| NM_001681.4:c.303T>C | NP_001672.1:p.Asn101= |