Revel Score:
ENST00000302118 (MANE Select)
0.201
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058182G>C , CM000663.2:g.55058182G>C | GRCh38 |
| NC_000001.10:g.55523855G>C , CM000663.1:g.55523855G>C | GRCh37 |
| NC_000001.9:g.55296443G>C | NCBI36 |
| NG_009061.1:g.23636G>C , LRG_275:g.23636G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1327G>C | ENSP00000501161.2:p.Ala443Pro | |
| ENST00000710286.1:c.1684G>C | ENSP00000518176.1:p.Ala562Pro | |
| ENST00000673903.1:c.952G>C | ENSP00000501257.1:p.Ala318Pro | |
| ENST00000673913.1:c.67G>C | ENSP00000501161.1:p.Ala23Pro | |
| ENST00000302118.5:c.1327G>C MANE Select | ENSP00000303208.5:p.Ala443Pro | |
| ENST00000490692.1:n.2051G>C | ||
| NM_174936.3:c.1327G>C , LRG_275t1:c.1327G>C | NP_777596.2:p.Ala443Pro | |
| NR_110451.1:n.961+25G>C | ||
| XM_011541193.1:c.448G>C | XP_011539495.1:p.Ala150Pro | |
| NM_174936.4:c.1327G>C MANE Select | NP_777596.2:p.Ala443Pro | |
| NR_110451.2:n.961+25G>C |