Linked Data
ClinVar Variation Id:
14044
ClinVar RCV Id:
RCV000015088
dbSNP Id:
rs104894463
gnomAD v4:
14-24081471-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081471A>G , CM000676.2:g.24081471A>G | GRCh38 |
| NC_000014.8:g.24550680A>G , CM000676.1:g.24550680A>G | GRCh37 |
| NC_000014.7:g.23620520A>G | NCBI36 |
| NG_011697.1:g.8153T>C | |
| NG_011697.2:g.38544T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561028.6:c.479T>C MANE Select | ENSP00000454062.2:p.Leu160Pro | |
| ENST00000396995.1:c.62T>C | ENSP00000380191.1:p.Leu21Pro | |
| ENST00000396997.1:c.479T>C | ENSP00000380193.1:p.Leu160Pro | |
| ENST00000397002.6:c.479T>C | ENSP00000380197.2:p.Leu160Pro | |
| ENST00000560550.1:c.62T>C | ENSP00000452966.1:p.Leu21Pro | |
| ENST00000561028.5:c.479T>C | ENSP00000454062.1:p.Leu160Pro | |
| NM_006177.3:c.479T>C | NP_006168.1:p.Leu160Pro | |
| XM_005267708.3:c.479T>C | XP_005267765.1:p.Leu160Pro | |
| XM_005267709.3:c.479T>C | XP_005267766.1:p.Leu160Pro | |
| XM_005267710.3:c.479T>C | XP_005267767.1:p.Leu160Pro | |
| XM_011536801.1:c.578T>C | XP_011535103.1:p.Leu193Pro | |
| XM_011536802.1:c.479T>C | XP_011535104.1:p.Leu160Pro | |
| XM_011536803.1:c.479T>C | XP_011535105.1:p.Leu160Pro | |
| XM_011536804.1:c.479T>C | XP_011535106.1:p.Leu160Pro | |
| XM_011536805.1:c.479T>C | XP_011535107.1:p.Leu160Pro | |
| XM_011536806.1:c.263T>C | XP_011535108.1:p.Leu88Pro | |
| NM_001354768.1:c.479T>C | NP_001341697.1:p.Leu160Pro | |
| NM_001354769.1:c.479T>C | NP_001341698.1:p.Leu160Pro | |
| NM_001354770.1:c.164T>C | NP_001341699.1:p.Leu55Pro | |
| NM_006177.4:c.479T>C | NP_006168.1:p.Leu160Pro | |
| XM_011536801.2:c.785T>C | XP_011535103.2:p.Leu262Pro | |
| XM_011536804.2:c.479T>C | XP_011535106.1:p.Leu160Pro | |
| XM_011536805.2:c.479T>C | XP_011535107.1:p.Leu160Pro | |
| XM_011536806.2:c.470T>C | XP_011535108.2:p.Leu157Pro | |
| NM_001354768.3:c.479T>C MANE Select | NP_001341697.1:p.Leu160Pro | |
| NM_001354770.2:c.164T>C | NP_001341699.1:p.Leu55Pro | |
| NM_006177.5:c.479T>C | NP_006168.1:p.Leu160Pro |