Revel Score:
ENST00000340855 (MANE Select)
0.814
ENST00000541269
0.814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487059C>T , CM000685.2:g.149487059C>T | GRCh38 |
| NC_000023.10:g.148568590C>T , CM000685.1:g.148568590C>T | GRCh37 |
| NC_000023.9:g.148376495C>T | NCBI36 |
| NG_011900.3:g.23276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1046G>A MANE Select | ENSP00000339801.6:p.Ser349Asn | |
| ENST00000651111.1:c.413G>A | ENSP00000498395.1:p.Ser138Asn | |
| ENST00000340855.10:c.1046G>A | ENSP00000339801.6:p.Ser349Asn | |
| ENST00000422081.6:c.413G>A | ENSP00000477056.1:p.Ser138Asn | |
| ENST00000441880.1:n.153G>A | ||
| NM_000202.6:c.1046G>A | NP_000193.1:p.Ser349Asn | |
| NM_001166550.2:c.776G>A | NP_001160022.1:p.Ser259Asn | |
| NM_000202.7:c.1046G>A | NP_000193.1:p.Ser349Asn | |
| NM_001166550.3:c.776G>A | NP_001160022.1:p.Ser259Asn | |
| NM_000202.8:c.1046G>A MANE Select | NP_000193.1:p.Ser349Asn | |
| NM_001166550.4:c.776G>A | NP_001160022.1:p.Ser259Asn |