Revel Score:
ENST00000409731
0.949
ENST00000345517 (MANE Select)
0.949
ENST00000409624
0.949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73916746C>T , CM000664.2:g.73916746C>T | GRCh38 |
| NC_000002.11:g.74143873C>T , CM000664.1:g.74143873C>T | GRCh37 |
| NC_000002.10:g.73997381C>T | NCBI36 |
| NG_034140.1:g.28781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345517.8:c.968C>T MANE Select | ENSP00000295137.3:p.Pro323Leu | |
| ENST00000345517.7:c.968C>T | ENSP00000295137.3:p.Pro323Leu | |
| ENST00000409624.1:c.968C>T | ENSP00000386857.1:p.Pro323Leu | |
| ENST00000409731.7:c.839C>T | ENSP00000386929.3:p.Pro280Leu | |
| ENST00000438902.6:c.*1033C>T | ENSP00000410706.2:n.*1033C>T | |
| NM_001199893.1:c.839C>T | NP_001186822.1:p.Pro280Leu | |
| NM_001615.3:c.968C>T | NP_001606.1:p.Pro323Leu | |
| NM_001199893.2:c.839C>T | NP_001186822.1:p.Pro280Leu | |
| NM_001615.4:c.968C>T MANE Select | NP_001606.1:p.Pro323Leu |