Revel Score:
ENST00000534474
0.130
ENST00000247712
0.130
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18193890A>T , CM000681.2:g.18193890A>T | GRCh38 |
| NC_000019.9:g.18304700A>T , CM000681.1:g.18304700A>T | GRCh37 |
| NC_000019.8:g.18165700A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599612.3:c.214A>T MANE Select | ENSP00000469836.2:p.Met72Leu | |
| ENST00000532896.5:n.659A>T | ||
| ENST00000533807.3:n.641A>T | ||
| ENST00000534421.1:n.278A>T | ||
| ENST00000599612.2:c.214A>T | ENSP00000469836.2:p.Met72Leu | |
| NM_032683.2:c.214A>T | NP_116072.2:p.Met72Leu | |
| NM_032683.3:c.214A>T MANE Select | NP_116072.2:p.Met72Leu |