Revel Score:
ENST00000538673
0.096
ENST00000371084 (MANE Select)
0.096
ENST00000540265
0.096
ENST00000371083
0.096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63638761A>C , CM000663.2:g.63638761A>C | GRCh38 |
| NC_000001.10:g.64104432A>C , CM000663.1:g.64104432A>C | GRCh37 |
| NC_000001.9:g.63877020A>C | NCBI36 |
| NG_016966.1:g.50486A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1105A>C MANE Select | ENSP00000360125.3:p.Ser369Arg | |
| ENST00000650546.1:c.1105A>C | ENSP00000497812.1:p.Ser369Arg | |
| ENST00000371083.4:c.1159A>C | ENSP00000360124.4:p.Ser387Arg | |
| ENST00000371084.7:c.1105A>C | ENSP00000360125.3:p.Ser369Arg | |
| ENST00000540265.5:c.514A>C | ENSP00000443449.1:p.Ser172Arg | |
| NM_001172818.1:c.1159A>C | NP_001166289.1:p.Ser387Arg | |
| NM_001172819.1:c.514A>C | NP_001166290.1:p.Ser172Arg | |
| NM_002633.2:c.1105A>C | NP_002624.2:p.Ser369Arg | |
| NM_002633.3:c.1105A>C MANE Select | NP_002624.2:p.Ser369Arg | |
| NM_001172819.2:c.514A>C | NP_001166290.1:p.Ser172Arg |