Revel Score:
ENST00000216797 (MANE Select)
0.092
ENST00000557140
0.092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404509C>G , CM000676.2:g.35404509C>G | GRCh38 |
| NC_000014.8:g.35873715C>G , CM000676.1:g.35873715C>G | GRCh37 |
| NC_000014.7:g.34943466C>G | NCBI36 |
| NG_007571.1:g.5230G>C , LRG_89:g.5230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.135+1G>C | ENSP00000451281.2:n.135+1G>C | |
| ENST00000557459.2:n.234G>C | ||
| ENST00000697957.1:n.241G>C | ||
| ENST00000697958.1:n.234G>C | ||
| ENST00000697959.1:n.241G>C | ||
| ENST00000697960.1:n.221G>C | ||
| ENST00000697961.1:c.136G>C | ENSP00000513487.1:p.Val46Leu | |
| ENST00000697966.1:n.154G>C | ||
| ENST00000216797.10:c.136G>C MANE Select | ENSP00000216797.6:p.Val46Leu | |
| ENST00000216797.9:c.136G>C | ENSP00000216797.5:p.Val46Leu | |
| ENST00000553342.1:c.135+1G>C | ENSP00000451281.1:n.135+1G>C | |
| ENST00000554001.5:c.136G>C | ENSP00000450537.1:p.Val46Leu | |
| ENST00000555629.1:n.241G>C | ||
| ENST00000557100.5:n.192G>C | ||
| ENST00000557140.5:c.136G>C | ENSP00000451257.1:p.Val46Leu | |
| ENST00000557459.1:n.234G>C | ||
| NM_020529.2:c.136G>C , LRG_89t1:c.136G>C | NP_065390.1:p.Val46Leu | |
| NM_020529.3:c.136G>C MANE Select | NP_065390.1:p.Val46Leu |