UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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 |