Revel Score:
ENST00000404039
0.693
ENST00000377770 (MANE Select)
0.693
ENST00000332007
0.693
ENST00000427557
0.693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154794095A>C , CM000669.2:g.154794095A>C | GRCh38 |
| NC_000007.13:g.154585805A>C , CM000669.1:g.154585805A>C | GRCh37 |
| NC_000007.12:g.154216738A>C | NCBI36 |
| NG_033878.1:g.911762A>C | |
| NG_033878.2:g.1051110A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.970A>C | ENSP00000516215.1:p.Met324Leu | |
| ENST00000706151.1:c.178A>C | ENSP00000516234.1:p.Met60Leu | |
| ENST00000706153.1:n.799A>C | ||
| ENST00000706154.1:n.437A>C | ||
| ENST00000706155.1:n.584A>C | ||
| ENST00000377770.8:c.1153A>C MANE Select | ENSP00000367001.3:p.Met385Leu | |
| ENST00000332007.7:c.967A>C | ENSP00000328226.3:p.Met323Leu | |
| ENST00000377770.7:c.1153A>C | ENSP00000367001.3:p.Met385Leu | |
| ENST00000404039.5:c.961A>C | ENSP00000385578.1:p.Met321Leu | |
| ENST00000427557.1:c.832A>C | ENSP00000397303.1:p.Met278Leu | |
| ENST00000471100.5:n.299A>C | ||
| ENST00000478614.1:n.371A>C | ||
| ENST00000481593.1:n.172A>C | ||
| NM_001039350.2:c.961A>C | NP_001034439.1:p.Met321Leu | |
| NM_001290252.1:c.832A>C | NP_001277181.1:p.Met278Leu | |
| NM_001936.4:c.967A>C | NP_001927.3:p.Met323Leu | |
| NM_130797.3:c.1153A>C | NP_570629.2:p.Met385Leu | |
| XM_011515865.1:c.961A>C | XP_011514167.1:p.Met321Leu | |
| XM_011515866.1:c.529A>C | XP_011514168.1:p.Met177Leu | |
| NM_001364497.1:c.970A>C | NP_001351426.1:p.Met324Leu | |
| NM_001364498.1:c.970A>C | NP_001351427.1:p.Met324Leu | |
| NM_001364499.1:c.970A>C | NP_001351428.1:p.Met324Leu | |
| NM_001364500.1:c.970A>C | NP_001351429.1:p.Met324Leu | |
| NM_001364501.1:c.961A>C | NP_001351430.1:p.Met321Leu | |
| NR_157195.1:n.1603A>C | ||
| NR_157196.1:n.1303A>C | ||
| XM_017011812.2:c.529A>C | XP_016867301.1:p.Met177Leu | |
| NM_130797.4:c.1153A>C MANE Select | NP_570629.2:p.Met385Leu | |
| NM_001039350.3:c.961A>C | NP_001034439.1:p.Met321Leu | |
| NM_001290252.2:c.832A>C | NP_001277181.1:p.Met278Leu | |
| NM_001364497.2:c.970A>C | NP_001351426.1:p.Met324Leu | |
| NM_001364498.2:c.970A>C | NP_001351427.1:p.Met324Leu | |
| NM_001364499.2:c.970A>C | NP_001351428.1:p.Met324Leu | |
| NM_001364500.2:c.970A>C | NP_001351429.1:p.Met324Leu | |
| NM_001936.5:c.967A>C | NP_001927.3:p.Met323Leu | |
| NR_157196.2:n.1303A>C | ||
| NM_001364501.2:c.961A>C | NP_001351430.1:p.Met321Leu | |
| NR_157195.2:n.1603A>C |