Revel Score:
ENST00000506883
0.080
ENST00000511045
0.080
ENST00000457717
0.080
ENST00000265517 (MANE Select)
0.080
ENST00000422897
0.080
ENST00000538053
0.080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583510A>T , CM000666.2:g.99583510A>T | GRCh38 |
| NC_000004.11:g.100504667A>T , CM000666.1:g.100504667A>T | GRCh37 |
| NC_000004.10:g.100723690A>T | NCBI36 |
| NG_011469.1:g.24428A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.386A>T MANE Select | ENSP00000265517.5:p.His129Leu | |
| ENST00000457717.6:c.386A>T | ENSP00000400821.1:p.His129Leu | |
| ENST00000511045.6:c.137A>T | ENSP00000427679.2:p.His46Leu | |
| ENST00000265517.9:c.386A>T | ENSP00000265517.5:p.His129Leu | |
| ENST00000422897.6:c.386A>T | ENSP00000407350.2:p.His129Leu | |
| ENST00000457717.5:c.386A>T | ENSP00000400821.1:p.His129Leu | |
| ENST00000506883.5:c.416A>T | ENSP00000426755.1:p.His139Leu | |
| ENST00000511045.5:c.467A>T | ENSP00000427679.1:p.His156Leu | |
| ENST00000619629.1:c.386A>T | ENSP00000482850.1:p.His129Leu | |
| NM_000253.3:c.386A>T | NP_000244.2:p.His129Leu | |
| NM_001300785.1:c.467A>T | NP_001287714.1:p.His156Leu | |
| NM_000253.4:c.386A>T | NP_000244.2:p.His129Leu | |
| NM_001300785.2:c.137A>T | NP_001287714.2:p.His46Leu | |
| NM_001386140.1:c.386A>T MANE Select | NP_001373069.1:p.His129Leu |