Revel Score:
ENST00000371817 (MANE Select)
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134806280G>C , CM000671.2:g.134806280G>C | GRCh38 |
| NC_000009.11:g.137698126G>C , CM000671.1:g.137698126G>C | GRCh37 |
| NC_000009.10:g.136837947G>C | NCBI36 |
| NG_008030.1:g.169475G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.3350G>C | ENSP00000360885.4:p.Gly1117Ala | |
| ENST00000371817.8:c.3350G>C MANE Select | ENSP00000360882.3:p.Gly1117Ala | |
| ENST00000371817.7:c.3350G>C | ENSP00000360882.3:p.Gly1117Ala | |
| ENST00000618395.4:c.3350G>C | ENSP00000481360.1:p.Gly1117Ala | |
| NM_000093.4:c.3350G>C | NP_000084.3:p.Gly1117Ala | |
| NM_001278074.1:c.3350G>C | NP_001265003.1:p.Gly1117Ala | |
| XR_929712.1:n.3752G>C | ||
| XR_929713.1:n.3752G>C | ||
| XM_017014266.2:c.3350G>C | XP_016869755.1:p.Gly1117Ala | |
| XR_001746183.1:n.3748G>C | ||
| NM_000093.5:c.3350G>C MANE Select | NP_000084.3:p.Gly1117Ala |