Revel Score:
ENST00000302053
0.054
ENST00000403106 (MANE Select)
0.054
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154586438T>A , CM000666.2:g.154586438T>A | GRCh38 |
| NC_000004.11:g.155507590T>A , CM000666.1:g.155507590T>A | GRCh37 |
| NC_000004.10:g.155727040T>A | NCBI36 |
| NG_008832.1:g.9308A>T , LRG_557:g.9308A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.991A>T | ENSP00000498441.1:p.Thr331Ser | |
| ENST00000403106.8:c.991A>T MANE Select | ENSP00000385981.3:p.Thr331Ser | |
| ENST00000651975.1:c.991A>T | ENSP00000498441.1:p.Thr331Ser | |
| ENST00000302053.7:c.991A>T | ENSP00000306361.3:p.Thr331Ser | |
| ENST00000403106.7:c.991A>T | ENSP00000385981.3:p.Thr331Ser | |
| ENST00000622532.1:c.643+348A>T | ENSP00000478487.1:n.643+348A>T | |
| NM_000508.3:c.991A>T , LRG_557t1:c.991A>T | NP_000499.1:p.Thr331Ser | |
| NM_021871.2:c.991A>T , LRG_557t2:c.991A>T | NP_068657.1:p.Thr331Ser | |
| NM_000508.4:c.991A>T | NP_000499.1:p.Thr331Ser | |
| NM_021871.3:c.991A>T | NP_068657.1:p.Thr331Ser | |
| NM_021871.4:c.991A>T MANE Select | NP_068657.1:p.Thr331Ser | |
| NM_000508.5:c.991A>T | NP_000499.1:p.Thr331Ser |