Revel Score:
ENST00000307503 (MANE Select)
0.576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869299T>C , CM000664.2:g.240869299T>C | GRCh38 |
| NC_000002.11:g.241808716T>C , CM000664.1:g.241808716T>C | GRCh37 |
| NC_000002.10:g.241457389T>C | NCBI36 |
| NG_008005.1:g.5555T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.295T>C MANE Select | ENSP00000302620.3:p.Ser99Pro | |
| ENST00000307503.3:c.295T>C | ENSP00000302620.3:p.Ser99Pro | |
| ENST00000472436.1:n.315T>C | ||
| NM_000030.2:c.295T>C | NP_000021.1:p.Ser99Pro | |
| XR_924060.1:n.405+934A>G | ||
| NM_000030.3:c.295T>C MANE Select | NP_000021.1:p.Ser99Pro |