Revel Score:
ENST00000251595 (MANE Select)
0.650
ENST00000534957
0.650
ENST00000397806
0.650
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173300A>C , CM000678.2:g.173300A>C | GRCh38 |
| NC_000016.9:g.223299A>C , CM000678.1:g.223299A>C | GRCh37 |
| NC_000016.8:g.163299A>C | NCBI36 |
| NG_000006.1:g.34163A>C | |
| NG_059186.1:g.1650A>C | |
| NG_059271.1:g.5454A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.271A>C MANE Select | ENSP00000251595.6:p.Lys91Gln | |
| ENST00000251595.10:c.271A>C | ENSP00000251595.6:p.Lys91Gln | |
| ENST00000397806.1:c.175A>C | ENSP00000380908.1:p.Lys59Gln | |
| ENST00000482565.1:n.407A>C | ||
| ENST00000484216.1:n.240A>C | ||
| NM_000517.4:c.271A>C | NP_000508.1:p.Lys91Gln | |
| NM_000517.6:c.271A>C MANE Select | NP_000508.1:p.Lys91Gln |