ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000295754 (MANE Select)
0.985
ENST00000359013
0.985
ENST00000439925
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672106T>C , CM000665.2:g.30672106T>C | GRCh38 |
| NC_000003.11:g.30713598T>C , CM000665.1:g.30713598T>C | GRCh37 |
| NC_000003.10:g.30688602T>C | NCBI36 |
| NG_007490.1:g.70605T>C , LRG_779:g.70605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.923T>C MANE Select | ENSP00000295754.5:p.Leu308Pro | |
| ENST00000672866.1:n.2519T>C | ||
| ENST00000295754.9:c.923T>C | ENSP00000295754.5:p.Leu308Pro | |
| ENST00000359013.4:c.998T>C | ENSP00000351905.4:p.Leu333Pro | |
| NM_001024847.2:c.998T>C , LRG_779t1:c.998T>C | NP_001020018.1:p.Leu333Pro | |
| NM_003242.5:c.923T>C | NP_003233.4:p.Leu308Pro | |
| XM_011534043.1:c.950T>C | XP_011532345.1:p.Leu317Pro | |
| XM_011534044.1:c.875T>C | XP_011532346.1:p.Leu292Pro | |
| XM_011534045.1:c.818T>C | XP_011532347.1:p.Leu273Pro | |
| XM_011534043.2:c.950T>C | XP_011532345.1:p.Leu317Pro | |
| XM_011534045.3:c.818T>C | XP_011532347.1:p.Leu273Pro | |
| XM_017007106.1:c.818T>C | XP_016862595.1:p.Leu273Pro | |
| NM_003242.6:c.923T>C MANE Select | NP_003233.4:p.Leu308Pro |