Revel Score:
ENST00000371817 (MANE Select)
0.879
ENST00000355306
0.879
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134824817G>C , CM000671.2:g.134824817G>C | GRCh38 |
| NC_000009.11:g.137716663G>C , CM000671.1:g.137716663G>C | GRCh37 |
| NC_000009.10:g.136856484G>C | NCBI36 |
| NG_008030.1:g.188012G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4916G>C | ENSP00000360885.4:p.Cys1639Ser | |
| ENST00000371817.8:c.4916G>C MANE Select | ENSP00000360882.3:p.Cys1639Ser | |
| ENST00000371817.7:c.4916G>C | ENSP00000360882.3:p.Cys1639Ser | |
| ENST00000371820.3:c.174G>C | ||
| ENST00000460264.5:n.384G>C | ||
| ENST00000465877.1:n.96G>C | ||
| ENST00000618395.4:c.4916G>C | ENSP00000481360.1:p.Cys1639Ser | |
| NM_000093.4:c.4916G>C | NP_000084.3:p.Cys1639Ser | |
| NM_001278074.1:c.4916G>C | NP_001265003.1:p.Cys1639Ser | |
| NR_103451.2:n.71-4608C>G | ||
| XR_929712.1:n.5318G>C | ||
| XR_929713.1:n.5318G>C | ||
| XM_017014266.2:c.4916G>C | XP_016869755.1:p.Cys1639Ser | |
| XR_001746183.1:n.5314G>C | ||
| NM_000093.5:c.4916G>C MANE Select | NP_000084.3:p.Cys1639Ser |