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:
14273
ClinVar RCV Id:
RCV000015343
dbSNP Id:
rs104893744
PubMed:
PMID:8589691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69959310T>C , CM000665.2:g.69959310T>C | GRCh38 |
| NC_000003.11:g.70008461T>C , CM000665.1:g.70008461T>C | GRCh37 |
| NC_000003.10:g.70091151T>C | NCBI36 |
| NG_011631.1:g.224829T>C , LRG_776:g.224829T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314589.11:c.1003T>C | ENSP00000324443.5:p.Ser335Pro | |
| ENST00000687384.1:c.1000T>C | ENSP00000510225.1:p.Ser334Pro | |
| ENST00000689390.1:n.1225T>C | ||
| ENST00000693031.1:c.976T>C | ENSP00000509845.1:p.Ser326Pro | |
| ENST00000693549.1:c.1003T>C | ENSP00000509358.1:p.Ser335Pro | |
| ENST00000314589.10:c.1003T>C | ENSP00000324443.5:p.Ser335Pro | |
| ENST00000352241.9:c.1069T>C MANE Select | ENSP00000295600.8:p.Ser357Pro | |
| ENST00000394351.9:c.748T>C MANE Plus Clinical | ENSP00000377880.3:p.Ser250Pro | |
| ENST00000448226.9:c.1048T>C | ENSP00000391803.3:p.Ser350Pro | |
| ENST00000642352.1:c.1051T>C | ENSP00000494105.1:p.Ser351Pro | |
| ENST00000314557.10:c.730T>C | ENSP00000324246.6:p.Ser244Pro | |
| ENST00000314589.9:c.1003T>C | ENSP00000324443.5:p.Ser335Pro | |
| ENST00000328528.10:c.1048T>C | ENSP00000327867.6:p.Ser350Pro | |
| ENST00000352241.8:c.1051T>C | ENSP00000295600.7:p.Ser351Pro | |
| ENST00000394351.7:c.748T>C | ENSP00000377880.3:p.Ser250Pro | |
| ENST00000448226.6:c.1069T>C | ENSP00000391803.2:p.Ser357Pro | |
| ENST00000451708.5:c.1021T>C | ENSP00000398639.1:p.Ser341Pro | |
| ENST00000472437.5:c.895T>C | ENSP00000418845.1:p.Ser299Pro | |
| ENST00000478490.5:c.*395T>C | ENSP00000433487.1:n.*395T>C | |
| ENST00000531774.1:c.562T>C | ENSP00000435909.1:p.Ser188Pro | |
| NM_000248.3:c.748T>C , LRG_776t1:c.748T>C | NP_000239.1:p.Ser250Pro | |
| NM_001184967.1:c.895T>C | NP_001171896.1:p.Ser299Pro | |
| NM_006722.2:c.1048T>C | NP_006713.1:p.Ser350Pro | |
| NM_198158.2:c.730T>C | NP_937801.1:p.Ser244Pro | |
| NM_198159.2:c.1051T>C | NP_937802.1:p.Ser351Pro | |
| NM_198177.2:c.1003T>C | NP_937820.1:p.Ser335Pro | |
| NM_198178.2:c.562T>C | NP_937821.2:p.Ser188Pro | |
| XM_005264754.1:c.1069T>C | XP_005264811.1:p.Ser357Pro | |
| XM_005264755.2:c.1021T>C | XP_005264812.1:p.Ser341Pro | |
| XM_006713164.2:c.913T>C | XP_006713227.1:p.Ser305Pro | |
| XM_011533722.1:c.1066T>C | XP_011532024.1:p.Ser356Pro | |
| XM_011533723.1:c.1018T>C | XP_011532025.1:p.Ser340Pro | |
| XM_011533724.1:c.913T>C | XP_011532026.1:p.Ser305Pro | |
| XM_011533725.1:c.901T>C | XP_011532027.1:p.Ser301Pro | |
| XM_011533726.1:c.883T>C | XP_011532028.1:p.Ser295Pro | |
| NM_001354604.1:c.1069T>C | NP_001341533.1:p.Ser357Pro | |
| NM_001354605.1:c.1066T>C | NP_001341534.1:p.Ser356Pro | |
| NM_001354606.1:c.1048T>C | NP_001341535.1:p.Ser350Pro | |
| NM_001354607.1:c.1000T>C | NP_001341536.1:p.Ser334Pro | |
| NM_001354608.1:c.895T>C | NP_001341537.1:p.Ser299Pro | |
| NM_001184967.2:c.895T>C | NP_001171896.1:p.Ser299Pro | |
| NM_001354604.2:c.1069T>C MANE Select | NP_001341533.1:p.Ser357Pro | |
| NM_001354605.2:c.1066T>C | NP_001341534.1:p.Ser356Pro | |
| NM_001354606.2:c.1048T>C | NP_001341535.1:p.Ser350Pro | |
| NM_001354607.2:c.1000T>C | NP_001341536.1:p.Ser334Pro | |
| NM_001354608.2:c.895T>C | NP_001341537.1:p.Ser299Pro | |
| NM_198158.3:c.730T>C | NP_937801.1:p.Ser244Pro | |
| NM_198159.3:c.1051T>C | NP_937802.1:p.Ser351Pro | |
| NM_198177.3:c.1003T>C | NP_937820.1:p.Ser335Pro | |
| NM_198178.3:c.562T>C | NP_937821.2:p.Ser188Pro | |
| NM_000248.4:c.748T>C MANE Plus Clinical | NP_000239.1:p.Ser250Pro | |
| NM_006722.3:c.1048T>C | NP_006713.1:p.Ser350Pro |