Revel Score:
ENST00000444970
0.540
ENST00000372348
0.540
ENST00000318560 (MANE Select)
0.540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862969G>T , CM000671.2:g.130862969G>T | GRCh38 |
| NC_000009.11:g.133738356G>T , CM000671.1:g.133738356G>T | GRCh37 |
| NC_000009.10:g.132728177G>T | NCBI36 |
| NG_012034.1:g.154089G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.813G>T | ENSP00000361423.2:p.Gln271His | |
| ENST00000318560.6:c.756G>T MANE Select | ENSP00000323315.5:p.Gln252His | |
| ENST00000372348.7:c.813G>T | ENSP00000361423.2:p.Gln271His | |
| ENST00000318560.5:c.756G>T | ENSP00000323315.5:p.Gln252His | |
| ENST00000372348.6:c.813G>T | ENSP00000361423.2:p.Gln271His | |
| NM_005157.5:c.756G>T | NP_005148.2:p.Gln252His | |
| NM_007313.2:c.813G>T | NP_009297.2:p.Gln271His | |
| NM_005157.6:c.756G>T MANE Select | NP_005148.2:p.Gln252His | |
| NM_007313.3:c.813G>T | NP_009297.2:p.Gln271His |