Revel Score:
ENST00000397292 (MANE Select)
0.195
ENST00000517642
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905985C>A , CM000671.2:g.26905985C>A | GRCh38 |
| NC_000009.11:g.26905983C>A , CM000671.1:g.26905983C>A | GRCh37 |
| NC_000009.10:g.26895983C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.1914G>T MANE Select | ENSP00000380460.3:p.Gln638His | |
| ENST00000397292.7:c.1914G>T | ENSP00000380460.3:p.Gln638His | |
| ENST00000517642.5:c.766G>T | ||
| NM_001031689.2:c.1914G>T | NP_001026859.1:p.Gln638His | |
| XM_011518071.1:c.1845G>T | XP_011516373.1:p.Gln615His | |
| NM_001321546.1:c.1845G>T | NP_001308475.1:p.Gln615His | |
| XR_001746420.2:n.2219G>T | ||
| NM_001031689.3:c.1914G>T MANE Select | NP_001026859.1:p.Gln638His | |
| NM_001321546.2:c.1845G>T | NP_001308475.1:p.Gln615His |