Linked Data
ClinVar Variation Id:
139616
ClinVar RCV Id:
RCV000128559
dbSNP Id:
rs587777507
gnomAD v4:
2-25241701-A-G
PubMed:
PMID:24614070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25241701A>G , CM000664.2:g.25241701A>G | GRCh38 |
| NC_000002.11:g.25464570A>G , CM000664.1:g.25464570A>G | GRCh37 |
| NC_000002.10:g.25318074A>G | NCBI36 |
| NG_029465.2:g.105890T>C , LRG_459:g.105890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.262T>C | ||
| ENST00000683393.1:c.1089T>C | ENSP00000508654.1:n.1089T>C | |
| ENST00000683760.1:c.1274T>C | ENSP00000507765.1:p.Leu425Pro | |
| ENST00000321117.10:c.1943T>C MANE Select | ENSP00000324375.5:p.Leu648Pro | |
| ENST00000264709.7:c.1943T>C | ENSP00000264709.3:p.Leu648Pro | |
| ENST00000321117.9:c.1943T>C | ENSP00000324375.5:p.Leu648Pro | |
| ENST00000380746.8:c.1376T>C | ENSP00000370122.4:p.Leu459Pro | |
| ENST00000380756.7:c.1943T>C | ENSP00000370132.3:p.Leu648Pro | |
| ENST00000402667.1:c.1274T>C | ENSP00000384237.1:p.Leu425Pro | |
| ENST00000461228.1:n.162T>C | ||
| ENST00000466601.5:n.315T>C | ||
| ENST00000474887.5:n.262T>C | ||
| ENST00000482935.5:n.83-971T>C | ||
| ENST00000491288.5:n.80T>C | ||
| NM_022552.4:c.1943T>C , LRG_459t1:c.1943T>C | NP_072046.2:p.Leu648Pro | |
| NM_153759.3:c.1376T>C , LRG_459t2:c.1376T>C | NP_715640.2:p.Leu459Pro | |
| NM_175629.2:c.1943T>C , LRG_459t4:c.1943T>C | NP_783328.1:p.Leu648Pro | |
| XM_005264175.3:c.1943T>C | XP_005264232.1:p.Leu648Pro | |
| XM_005264177.3:c.1274T>C | XP_005264234.1:p.Leu425Pro | |
| XM_006711957.2:c.1943T>C | XP_006712020.1:p.Leu648Pro | |
| XM_006711958.2:c.1499T>C | XP_006712021.1:p.Leu500Pro | |
| XM_011532662.1:c.1796T>C | XP_011530964.1:p.Leu599Pro | |
| XM_011532663.1:c.1778T>C | XP_011530965.1:p.Leu593Pro | |
| XM_011532664.1:c.1943T>C | XP_011530966.1:p.Leu648Pro | |
| XM_011532665.1:c.1487T>C | XP_011530967.1:p.Leu496Pro | |
| XM_011532666.1:c.1415T>C | XP_011530968.1:p.Leu472Pro | |
| XM_011532667.1:c.1274T>C | XP_011530969.1:p.Leu425Pro | |
| XM_011532668.1:c.1943T>C | XP_011530970.1:p.Leu648Pro | |
| NM_001320893.1:c.1487T>C | NP_001307822.1:p.Leu496Pro | |
| NR_135490.1:n.2281T>C | ||
| XM_005264175.5:c.1943T>C | XP_005264232.1:p.Leu648Pro | |
| XM_005264177.4:c.1274T>C | XP_005264234.1:p.Leu425Pro | |
| XM_011532662.2:c.1796T>C | XP_011530964.1:p.Leu599Pro | |
| XM_011532663.2:c.1778T>C | XP_011530965.1:p.Leu593Pro | |
| XM_011532664.2:c.1943T>C | XP_011530966.1:p.Leu648Pro | |
| XM_011532666.2:c.1415T>C | XP_011530968.1:p.Leu472Pro | |
| XM_011532667.3:c.1274T>C | XP_011530969.1:p.Leu425Pro | |
| XM_017003526.1:c.1943T>C | XP_016859015.1:p.Leu648Pro | |
| XM_017003527.1:c.1274T>C | XP_016859016.1:p.Leu425Pro | |
| XR_001738657.1:n.2220T>C | ||
| NM_001375819.1:c.1274T>C | NP_001362748.1:p.Leu425Pro | |
| NR_135490.2:n.2174T>C | ||
| NM_022552.5:c.1943T>C MANE Select | NP_072046.2:p.Leu648Pro |