Revel Score:
ENST00000372348
0.712
ENST00000318560 (MANE Select)
0.712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862955C>A , CM000671.2:g.130862955C>A | GRCh38 |
| NC_000009.11:g.133738342C>A , CM000671.1:g.133738342C>A | GRCh37 |
| NC_000009.10:g.132728163C>A | NCBI36 |
| NG_012034.1:g.154075C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.799C>A | ENSP00000361423.2:p.Leu267Met | |
| ENST00000318560.6:c.742C>A MANE Select | ENSP00000323315.5:p.Leu248Met | |
| ENST00000372348.7:c.799C>A | ENSP00000361423.2:p.Leu267Met | |
| ENST00000318560.5:c.742C>A | ENSP00000323315.5:p.Leu248Met | |
| ENST00000372348.6:c.799C>A | ENSP00000361423.2:p.Leu267Met | |
| NM_005157.5:c.742C>A | NP_005148.2:p.Leu248Met | |
| NM_007313.2:c.799C>A | NP_009297.2:p.Leu267Met | |
| NM_005157.6:c.742C>A MANE Select | NP_005148.2:p.Leu248Met | |
| NM_007313.3:c.799C>A | NP_009297.2:p.Leu267Met |