Revel Score:
ENST00000263923 (MANE Select)
0.160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55106807T>G , CM000666.2:g.55106807T>G | GRCh38 |
| NC_000004.11:g.55972974T>G , CM000666.1:g.55972974T>G | GRCh37 |
| NC_000004.10:g.55667731T>G | NCBI36 |
| NG_012004.1:g.23789A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1416A>C MANE Select | ENSP00000263923.4:p.Gln472His | |
| ENST00000647068.1:n.1429A>C | ||
| ENST00000263923.4:c.1416A>C | ENSP00000263923.4:p.Gln472His | |
| ENST00000512566.1:n.1416A>C | ||
| NM_002253.2:c.1416A>C | NP_002244.1:p.Gln472His | |
| NM_002253.3:c.1416A>C | NP_002244.1:p.Gln472His | |
| NM_002253.4:c.1416A>C MANE Select | NP_002244.1:p.Gln472His |