Revel Score:
ENST00000554636
0.034
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67651415C>G , CM000676.2:g.67651415C>G | GRCh38 |
| NC_000014.8:g.68118132C>G , CM000676.1:g.68118132C>G | GRCh37 |
| NC_000014.7:g.67187885C>G | NCBI36 |
| NG_011964.1:g.36554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261783.4:c.*495C>G (ARG2) MANE Select | ENSP00000261783.3:n.*495C>G | |
| ENST00000554659.6:c.669G>C (VTI1B) MANE Select | ENSP00000450731.1:p.Leu223= | |
| ENST00000216456.6:c.*696G>C (VTI1B) | ENSP00000216456.6:n.*696G>C | |
| ENST00000261783.3:c.*495C>G (ARG2) | ENSP00000261783.3:n.*495C>G | |
| ENST00000554636.1:c.302G>C (VTI1B) | ||
| ENST00000554659.5:c.669G>C (VTI1B) | ENSP00000450731.1:p.Leu223= | |
| ENST00000556461.1:c.422G>C (VTI1B) | ||
| NM_001172.3:c.*495C>G (ARG2) | NP_001163.1:n.*495C>G | |
| NM_006370.2:c.669G>C (VTI1B) | NP_006361.1:p.Leu223= | |
| XM_017020925.2:c.1313-83780C>G (GPHN) | XP_016876414.1:n.1313-83780C>G | |
| NM_001172.4:c.*495C>G (ARG2) MANE Select | NP_001163.1:n.*495C>G | |
| NM_006370.3:c.669G>C (VTI1B) MANE Select | NP_006361.1:p.Leu223= |