Revel Score:
ENST00000259407 (MANE Select)
0.654
ENST00000395051
0.654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101371179T>A , CM000671.2:g.101371179T>A | GRCh38 |
| NC_000009.11:g.104133461T>A , CM000671.1:g.104133461T>A | GRCh37 |
| NC_000009.10:g.103173282T>A | NCBI36 |
| NG_009774.1:g.18827A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.226A>T MANE Select | ENSP00000259407.2:p.Met76Leu | |
| ENST00000395051.4:c.226A>T | ENSP00000378491.3:p.Met76Leu | |
| ENST00000674556.1:c.226A>T | ENSP00000501610.1:p.Met76Leu | |
| ENST00000674791.1:c.226A>T | ENSP00000501644.1:p.Met76Leu | |
| ENST00000674909.1:c.226A>T | ENSP00000502812.1:p.Met76Leu | |
| ENST00000259407.6:c.226A>T | ENSP00000259407.2:p.Met76Leu | |
| ENST00000395051.3:c.226A>T | ENSP00000378491.3:p.Met76Leu | |
| NM_001127610.1:c.226A>T | NP_001121082.1:p.Met76Leu | |
| NM_001701.3:c.226A>T | NP_001692.1:p.Met76Leu | |
| NM_001127610.2:c.226A>T | NP_001121082.1:p.Met76Leu | |
| NM_001374715.1:c.226A>T | NP_001361644.1:p.Met76Leu | |
| NM_001701.4:c.226A>T MANE Select | NP_001692.1:p.Met76Leu |