Revel Score:
ENST00000341864 (MANE Select)
0.611
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78139575G>C , CM000685.2:g.78139575G>C | GRCh38 |
| NC_000023.10:g.77395072G>C , CM000685.1:g.77395072G>C | GRCh37 |
| NC_000023.9:g.77281728G>C | NCBI36 |
| NG_012570.1:g.5108C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341864.6:c.37C>G MANE Select | ENSP00000339917.5:p.Pro13Ala | |
| ENST00000341864.5:c.37C>G | ENSP00000339917.5:p.Pro13Ala | |
| ENST00000480681.1:n.48C>G | ||
| NM_015975.4:c.37C>G | NP_057059.2:p.Pro13Ala | |
| NM_015975.5:c.37C>G MANE Select | NP_057059.2:p.Pro13Ala |