Revel Score:
ENST00000295754 (MANE Select)
0.916
ENST00000359013
0.916
ENST00000439925
0.916
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672246G>C , CM000665.2:g.30672246G>C | GRCh38 |
| NC_000003.11:g.30713738G>C , CM000665.1:g.30713738G>C | GRCh37 |
| NC_000003.10:g.30688742G>C | NCBI36 |
| NG_007490.1:g.70745G>C , LRG_779:g.70745G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1063G>C MANE Select | ENSP00000295754.5:p.Ala355Pro | |
| ENST00000672866.1:n.2659G>C | ||
| ENST00000295754.9:c.1063G>C | ENSP00000295754.5:p.Ala355Pro | |
| ENST00000359013.4:c.1138G>C | ENSP00000351905.4:p.Ala380Pro | |
| NM_001024847.2:c.1138G>C , LRG_779t1:c.1138G>C | NP_001020018.1:p.Ala380Pro | |
| NM_003242.5:c.1063G>C | NP_003233.4:p.Ala355Pro | |
| XM_011534043.1:c.1090G>C | XP_011532345.1:p.Ala364Pro | |
| XM_011534044.1:c.1015G>C | XP_011532346.1:p.Ala339Pro | |
| XM_011534045.1:c.958G>C | XP_011532347.1:p.Ala320Pro | |
| XM_011534043.2:c.1090G>C | XP_011532345.1:p.Ala364Pro | |
| XM_011534045.3:c.958G>C | XP_011532347.1:p.Ala320Pro | |
| XM_017007106.1:c.958G>C | XP_016862595.1:p.Ala320Pro | |
| NM_003242.6:c.1063G>C MANE Select | NP_003233.4:p.Ala355Pro |