Revel Score:
ENST00000379695
0.069
ENST00000317306 (MANE Select)
0.335
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816972G>C , CM000681.2:g.17816972G>C | GRCh38 |
| NC_000019.9:g.17927781G>C , CM000681.1:g.17927781G>C | GRCh37 |
| NC_000019.8:g.17788781G>C | NCBI36 |
| NG_012092.1:g.9540C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317306.8:c.278C>G MANE Select | ENSP00000321724.6:p.Pro93Arg | |
| ENST00000317306.7:c.278C>G | ENSP00000321724.6:p.Pro93Arg | |
| ENST00000379695.5:c.373C>G | ENSP00000369017.4:p.Pro125Ala | |
| ENST00000598577.1:c.299C>G | ||
| NM_001265587.1:c.373C>G | NP_001252516.1:p.Pro125Ala | |
| NM_005543.3:c.278C>G | NP_005534.2:p.Pro93Arg | |
| NM_001265587.2:c.373C>G | NP_001252516.1:p.Pro125Ala | |
| NM_005543.4:c.278C>G MANE Select | NP_005534.2:p.Pro93Arg |