Revel Score:
ENST00000398606 (MANE Select)
0.110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586116G>C , CM000673.2:g.67586116G>C | GRCh38 |
| NC_000011.9:g.67353587G>C , CM000673.1:g.67353587G>C | GRCh37 |
| NC_000011.8:g.67110163G>C | NCBI36 |
| NG_012075.1:g.7522G>C , LRG_723:g.7522G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-273G>C | ENSP00000381604.1:n.337-273G>C | |
| ENST00000398606.10:c.349G>C MANE Select | ENSP00000381607.3:p.Asp117His | |
| ENST00000646888.1:c.*65G>C | ENSP00000494477.1:n.*65G>C | |
| ENST00000398603.5:c.337-273G>C | ENSP00000381604.1:n.337-273G>C | |
| ENST00000398606.7:c.349G>C | ENSP00000381607.3:p.Asp117His | |
| ENST00000467591.1:n.460G>C | ||
| ENST00000494593.1:n.1144G>C | ||
| ENST00000495996.1:c.13G>C | ENSP00000484686.1:p.Asp5His | |
| ENST00000498765.5:c.412G>C | ||
| NM_000852.3:c.349G>C , LRG_723t1:c.349G>C | NP_000843.1:p.Asp117His | |
| NM_000852.4:c.349G>C MANE Select | NP_000843.1:p.Asp117His |