Revel Score:
ENST00000276833
0.083
ENST00000301305 (MANE Select)
0.083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144415966G>C , CM000670.2:g.144415966G>C | GRCh38 |
| NC_000008.10:g.145641350G>C , CM000670.1:g.145641350G>C | GRCh37 |
| NC_000008.9:g.145612158G>C | NCBI36 |
| NG_012234.2:g.5925C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.318C>G MANE Select | ENSP00000301305.4:p.Asn106Lys | |
| ENST00000276833.9:c.243C>G | ENSP00000276833.5:p.Asn81Lys | |
| ENST00000301305.7:c.318C>G | ENSP00000301305.3:p.Asn106Lys | |
| ENST00000526658.1:c.193-547C>G | ENSP00000434512.1:n.193-547C>G | |
| NM_017767.2:c.243C>G | NP_060237.2:p.Asn81Lys | |
| NM_130849.3:c.318C>G | NP_570901.2:p.Asn106Lys | |
| XM_006716599.1:c.318C>G | XP_006716662.1:p.Asn106Lys | |
| XM_011517153.1:c.193-547C>G | XP_011515455.1:n.193-547C>G | |
| XM_024447188.1:c.193-547C>G | XP_024302956.1:n.193-547C>G | |
| XM_024447189.1:c.193-547C>G | XP_024302957.1:n.193-547C>G | |
| NM_001374839.1:c.193-547C>G | NP_001361768.1:n.193-547C>G | |
| NM_017767.3:c.243C>G | NP_060237.3:p.Asn81Lys | |
| NM_130849.4:c.318C>G MANE Select | NP_570901.3:p.Asn106Lys |