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:
140779
ClinVar RCV Id:
RCV000128922
RCV000220784
RCV000226897
RCV000412094
RCV000780475
RCV001356921
RCV003153411
RCV003149883
RCV003323293
RCV004532539
dbSNP Id:
rs61756469
ExAC:
2:48010479 C / T
gnomAD v2:
2-48010479-C-T
gnomAD v3:
2-47783340-C-T
gnomAD v4:
2-47783340-C-T
PubMed:
PMID:26530882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783340C>T , CM000664.2:g.47783340C>T | GRCh38 |
| NC_000002.11:g.48010479C>T , CM000664.1:g.48010479C>T | GRCh37 |
| NC_000002.10:g.47863983C>T | NCBI36 |
| NG_007111.1:g.5194C>T , LRG_219:g.5194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.107C>T | ENSP00000514752.2:p.Ala36Val | |
| ENST00000699999.1:n.191C>T | ||
| ENST00000700000.1:c.107C>T | ENSP00000514749.1:p.Ala36Val | |
| ENST00000700001.1:n.179C>T | ||
| ENST00000700002.1:c.107C>T | ENSP00000514750.1:p.Ala36Val | |
| ENST00000700003.1:c.107C>T | ENSP00000514751.1:p.Ala36Val | |
| ENST00000234420.11:c.107C>T MANE Select | ENSP00000234420.5:p.Ala36Val | |
| ENST00000540021.6:c.107C>T | ENSP00000446475.1:p.Ala36Val | |
| ENST00000652107.1:c.-37-7587C>T | ENSP00000498629.1:n.-37-7587C>T | |
| ENST00000673637.1:c.-38+109C>T | ENSP00000501310.1:n.-38+109C>T | |
| ENST00000673922.1:n.196C>T | ||
| ENST00000234420.9:c.107C>T | ENSP00000234420.4:p.Ala36Val | |
| ENST00000445503.5:c.107C>T | ENSP00000405294.1:p.Ala36Val | |
| ENST00000456246.1:c.107C>T | ENSP00000410570.1:p.Ala36Val | |
| ENST00000493177.1:n.171C>T | ||
| ENST00000540021.5:c.107C>T | ENSP00000446475.1:p.Ala36Val | |
| ENST00000606499.1:c.-37-7587C>T | ENSP00000475605.1:n.-37-7587C>T | |
| ENST00000614496.4:c.-630C>T | ENSP00000477844.1:n.-630C>T | |
| ENST00000616033.4:c.105C>T | ENSP00000480261.1:p.Arg35= | |
| ENST00000622629.4:c.-2990C>T | ENSP00000482078.1:n.-2990C>T | |
| NM_000179.2:c.107C>T , LRG_219t1:c.107C>T | NP_000170.1:p.Ala36Val | |
| NM_001281492.1:c.107C>T | NP_001268421.1:p.Ala36Val | |
| NM_001281493.1:c.-630C>T | NP_001268422.1:n.-630C>T | |
| XM_011532800.1:c.-38+109C>T | XP_011531102.1:n.-38+109C>T | |
| XM_024452819.1:c.107C>T | XP_024308587.1:p.Ala36Val | |
| XM_024452822.1:c.-630C>T | XP_024308590.1:n.-630C>T | |
| NM_000179.3:c.107C>T MANE Select | NP_000170.1:p.Ala36Val | |
| NM_001281492.2:c.107C>T | NP_001268421.1:p.Ala36Val | |
| NM_001281493.2:c.-630C>T | NP_001268422.1:n.-630C>T |