Revel Score:
ENST00000438045
0.323
ENST00000248633 (MANE Select)
0.323
ENST00000428214
0.323
ENST00000545192
0.323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522160T>C , CM000669.2:g.92522160T>C | GRCh38 |
| NC_000007.13:g.92151474T>C , CM000669.1:g.92151474T>C | GRCh37 |
| NC_000007.12:g.91989410T>C | NCBI36 |
| NG_008341.1:g.11372A>G | |
| NG_008341.2:g.11372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.215A>G MANE Select | ENSP00000248633.4:p.Asn72Ser | |
| ENST00000248633.8:c.215A>G | ENSP00000248633.4:p.Asn72Ser | |
| ENST00000428214.5:c.215A>G | ENSP00000394413.1:p.Asn72Ser | |
| ENST00000438045.5:c.215A>G | ENSP00000410438.1:p.Asn72Ser | |
| ENST00000484913.5:n.219A>G | ||
| NM_000466.2:c.215A>G | NP_000457.1:p.Asn72Ser | |
| NM_001282677.1:c.215A>G | NP_001269606.1:p.Asn72Ser | |
| NM_001282678.1:c.-445A>G | NP_001269607.1:n.-445A>G | |
| XR_242246.3:n.311A>G | ||
| XR_242246.5:n.262A>G | ||
| NM_000466.3:c.215A>G MANE Select | NP_000457.1:p.Asn72Ser | |
| NM_001282677.2:c.215A>G | NP_001269606.1:p.Asn72Ser | |
| NM_001282678.2:c.-445A>G | NP_001269607.1:n.-445A>G |