Revel Score:
ENST00000248633 (MANE Select)
0.960
ENST00000428214
0.960
ENST00000545192
0.960
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519006A>G , CM000669.2:g.92519006A>G | GRCh38 |
| NC_000007.13:g.92148320A>G , CM000669.1:g.92148320A>G | GRCh37 |
| NC_000007.12:g.91986256A>G | NCBI36 |
| NG_008341.1:g.14526T>C | |
| NG_008341.2:g.14526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.346T>C MANE Select | ENSP00000248633.4:p.Trp116Arg | |
| ENST00000248633.8:c.346T>C | ENSP00000248633.4:p.Trp116Arg | |
| ENST00000428214.5:c.346T>C | ENSP00000394413.1:p.Trp116Arg | |
| ENST00000438045.5:c.273+3096T>C | ENSP00000410438.1:n.273+3096T>C | |
| ENST00000484913.5:n.350T>C | ||
| NM_000466.2:c.346T>C | NP_000457.1:p.Trp116Arg | |
| NM_001282677.1:c.346T>C | NP_001269606.1:p.Trp116Arg | |
| NM_001282678.1:c.-314T>C | NP_001269607.1:n.-314T>C | |
| XR_242246.3:n.442T>C | ||
| XR_242246.5:n.393T>C | ||
| NM_000466.3:c.346T>C MANE Select | NP_000457.1:p.Trp116Arg | |
| NM_001282677.2:c.346T>C | NP_001269606.1:p.Trp116Arg | |
| NM_001282678.2:c.-314T>C | NP_001269607.1:n.-314T>C |