Revel Score:
ENST00000379374 (MANE Select)
0.637
ENST00000537599
0.637
ENST00000535894
0.637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22094009G>A , CM000685.2:g.22094009G>A | GRCh38 |
| NC_000023.10:g.22112127G>A , CM000685.1:g.22112127G>A | GRCh37 |
| NC_000023.9:g.22022048G>A | NCBI36 |
| NG_007563.2:g.66207G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1185G>A | ||
| ENST00000684143.1:c.756G>A | ENSP00000508264.1:p.Met252Ile | |
| ENST00000684745.1:n.433G>A | ||
| ENST00000379374.5:c.759G>A MANE Select | ENSP00000368682.4:p.Met253Ile | |
| ENST00000379374.4:c.759G>A | ENSP00000368682.4:p.Met253Ile | |
| ENST00000475778.1:n.32G>A | ||
| NM_000444.5:c.759G>A | NP_000435.3:p.Met253Ile | |
| NM_001282754.1:c.759G>A | NP_001269683.1:p.Met253Ile | |
| XM_011545533.1:c.3G>A | XP_011543835.1:p.Met1Ile | |
| XM_011545534.1:c.3G>A | XP_011543836.1:p.Met1Ile | |
| XM_011545535.1:c.759G>A | XP_011543837.1:p.Met253Ile | |
| XM_017029579.1:c.3G>A | XP_016885068.1:p.Met1Ile | |
| XM_024452390.1:c.468G>A | XP_024308158.1:p.Met156Ile | |
| XR_001755695.1:n.1438G>A | ||
| NM_000444.6:c.759G>A MANE Select | NP_000435.3:p.Met253Ile | |
| NM_001282754.2:c.759G>A | NP_001269683.1:p.Met253Ile |