Revel Score:
ENST00000250863
0.100
ENST00000399444 (MANE Select)
0.100
ENST00000454457
0.100
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16598169T>G , CM000665.2:g.16598169T>G | GRCh38 |
| NC_000003.11:g.16639676T>G , CM000665.1:g.16639676T>G | GRCh37 |
| NC_000003.10:g.16614680T>G | NCBI36 |
| NG_023329.1:g.12331A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399444.7:c.160A>C MANE Select | ENSP00000382373.3:p.Thr54Pro | |
| ENST00000250863.12:c.220A>C | ENSP00000250863.8:p.Thr74Pro | |
| ENST00000399444.6:c.160A>C | ENSP00000382373.2:p.Thr54Pro | |
| ENST00000454457.1:c.274A>C | ENSP00000398109.1:p.Thr92Pro | |
| NM_001190811.1:c.220A>C | NP_001177740.1:p.Thr74Pro | |
| NM_001351.3:c.160A>C | NP_001342.2:p.Thr54Pro | |
| NM_001351.4:c.160A>C MANE Select | NP_001342.2:p.Thr54Pro | |
| NM_001190811.2:c.220A>C | NP_001177740.1:p.Thr74Pro |