Revel Score:
ENST00000394821
0.308
ENST00000401766
0.308
ENST00000261707
0.308
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30211356T>G , CM000679.2:g.30211356T>G | GRCh38 |
| NC_000017.10:g.28538374T>G , CM000679.1:g.28538374T>G | GRCh37 |
| NC_000017.9:g.25562500T>G | NCBI36 |
| NG_011747.2:g.29581A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.1273A>C MANE Select | ENSP00000498537.1:p.Ile425Leu | |
| ENST00000261707.7:c.1273A>C | ENSP00000261707.3:p.Ile425Leu | |
| ENST00000394821.2:c.1273A>C | ENSP00000378298.2:p.Ile425Leu | |
| ENST00000401766.6:c.1273A>C | ENSP00000385822.2:p.Ile425Leu | |
| ENST00000579221.5:c.14A>C | ||
| NM_001045.5:c.1273A>C | NP_001036.1:p.Ile425Leu | |
| NM_001045.6:c.1273A>C MANE Select | NP_001036.1:p.Ile425Leu |