Revel Score:
ENST00000261590 (MANE Select)
0.774
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524478G>C , CM000680.2:g.31524478G>C | GRCh38 |
| NC_000018.9:g.29104441G>C , CM000680.1:g.29104441G>C | GRCh37 |
| NC_000018.8:g.27358439G>C | NCBI36 |
| NG_007072.3:g.31237G>C , LRG_397:g.31237G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.552G>C | ||
| ENST00000683614.2:n.552G>C | ||
| ENST00000682087.1:c.552G>C | ||
| ENST00000683614.1:c.552G>C | ||
| ENST00000261590.13:c.721G>C MANE Select | ENSP00000261590.8:p.Ala241Pro | |
| ENST00000261590.12:c.721G>C | ENSP00000261590.8:p.Ala241Pro | |
| NM_001943.3:c.721G>C , LRG_397t1:c.721G>C | NP_001934.2:p.Ala241Pro | |
| NM_001943.4:c.721G>C | NP_001934.2:p.Ala241Pro | |
| XM_024451095.1:c.187G>C | XP_024306863.1:p.Ala63Pro | |
| NM_001943.5:c.721G>C MANE Select | NP_001934.2:p.Ala241Pro |