Revel Score:
ENST00000371817 (MANE Select)
0.922
ENST00000355306
0.922
ENST00000371820
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134824816T>A , CM000671.2:g.134824816T>A | GRCh38 |
| NC_000009.11:g.137716662T>A , CM000671.1:g.137716662T>A | GRCh37 |
| NC_000009.10:g.136856483T>A | NCBI36 |
| NG_008030.1:g.188011T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4915T>A | ENSP00000360885.4:p.Cys1639Ser | |
| ENST00000371817.8:c.4915T>A MANE Select | ENSP00000360882.3:p.Cys1639Ser | |
| ENST00000371817.7:c.4915T>A | ENSP00000360882.3:p.Cys1639Ser | |
| ENST00000371820.3:c.173T>A | ||
| ENST00000460264.5:n.383T>A | ||
| ENST00000465877.1:n.95T>A | ||
| ENST00000618395.4:c.4915T>A | ENSP00000481360.1:p.Cys1639Ser | |
| NM_000093.4:c.4915T>A | NP_000084.3:p.Cys1639Ser | |
| NM_001278074.1:c.4915T>A | NP_001265003.1:p.Cys1639Ser | |
| NR_103451.2:n.71-4607A>T | ||
| XR_929712.1:n.5317T>A | ||
| XR_929713.1:n.5317T>A | ||
| XM_017014266.2:c.4915T>A | XP_016869755.1:p.Cys1639Ser | |
| XR_001746183.1:n.5313T>A | ||
| NM_000093.5:c.4915T>A MANE Select | NP_000084.3:p.Cys1639Ser |