Revel Score:
ENST00000307503 (MANE Select)
0.759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868983G>C , CM000664.2:g.240868983G>C | GRCh38 |
| NC_000002.11:g.241808400G>C , CM000664.1:g.241808400G>C | GRCh37 |
| NC_000002.10:g.241457073G>C | NCBI36 |
| NG_008005.1:g.5239G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.118G>C MANE Select | ENSP00000302620.3:p.Ala40Pro | |
| ENST00000307503.3:c.118G>C | ENSP00000302620.3:p.Ala40Pro | |
| ENST00000472436.1:n.138G>C | ||
| NM_000030.2:c.118G>C | NP_000021.1:p.Ala40Pro | |
| XR_924060.1:n.405+1250C>G | ||
| NM_000030.3:c.118G>C MANE Select | NP_000021.1:p.Ala40Pro |