Revel Score:
ENST00000436313
0.497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24353571C>A , CM000668.2:g.24353571C>A | GRCh38 |
| NC_000006.11:g.24353799C>A , CM000668.1:g.24353799C>A | GRCh37 |
| NC_000006.10:g.24461778C>A | NCBI36 |
| NG_012829.1:g.9482G>T | |
| NG_012829.2:g.34722G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.346G>T MANE Select | ENSP00000367715.3:p.Glu116Ter | |
| ENST00000378454.7:c.346G>T | ENSP00000367715.3:p.Glu116Ter | |
| ENST00000436313.1:c.249G>T | ||
| NM_001195610.1:c.346G>T | NP_001182539.1:p.Glu116Ter | |
| NM_016356.4:c.346G>T | NP_057440.2:p.Glu116Ter | |
| NM_016356.5:c.346G>T MANE Select | NP_057440.2:p.Glu116Ter | |
| NM_001195610.2:c.346G>T | NP_001182539.1:p.Glu116Ter |