Revel Score:
ENST00000494383
0.018
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52222681C>G , CM000665.2:g.52222681C>G | GRCh38 |
| NC_000003.11:g.52256697C>G , CM000665.1:g.52256697C>G | GRCh37 |
| NC_000003.10:g.52231737C>G | NCBI36 |
| NG_033933.1:g.8483G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.1635G>C MANE Select | ENSP00000353874.2:p.Pro545= | |
| ENST00000360658.2:c.1635G>C | ENSP00000353874.2:p.Pro545= | |
| ENST00000494383.1:c.2095G>C | ||
| NM_017442.3:c.1635G>C | NP_059138.1:p.Pro545= | |
| NM_017442.4:c.1635G>C MANE Select | NP_059138.1:p.Pro545= |