Revel Score:
ENST00000327259 (MANE Select)
0.387
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66295004T>C , CM000673.2:g.66295004T>C | GRCh38 |
| NC_000011.9:g.66062475T>C , CM000673.1:g.66062475T>C | GRCh37 |
| NC_000011.8:g.65819051T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327259.5:c.758T>C MANE Select | ENSP00000326244.4:p.Leu253Pro | |
| ENST00000327259.4:c.758T>C | ENSP00000326244.4:p.Leu253Pro | |
| NM_153266.3:c.758T>C | NP_694998.1:p.Leu253Pro | |
| NM_153266.4:c.758T>C MANE Select | NP_694998.1:p.Leu253Pro |