ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000282091 (MANE Select)
0.588
ENST00000529816
0.588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492789A>G , CM000673.2:g.13492789A>G | GRCh38 |
| NC_000011.9:g.13514336A>G , CM000673.1:g.13514336A>G | GRCh37 |
| NC_000011.8:g.13470912A>G | NCBI36 |
| NG_008962.1:g.8232T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.67T>C MANE Select | ENSP00000282091.1:p.Ser23Pro | |
| ENST00000282091.5:c.67T>C | ENSP00000282091.1:p.Ser23Pro | |
| ENST00000529816.1:c.67T>C | ENSP00000433208.1:p.Ser23Pro | |
| NM_000315.2:c.67T>C | NP_000306.1:p.Ser23Pro | |
| NM_000315.3:c.67T>C | NP_000306.1:p.Ser23Pro | |
| NM_001316352.1:c.163T>C | NP_001303281.1:p.Ser55Pro | |
| NM_000315.4:c.67T>C MANE Select | NP_000306.1:p.Ser23Pro | |
| NM_001316352.2:c.163T>C | NP_001303281.1:p.Ser55Pro |