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:
448930
dbSNP Id:
rs200856000
ExAC:
3:12660097 C / T
gnomAD v2:
3-12660097-C-T
gnomAD v3:
3-12618598-C-T
gnomAD v4:
3-12618598-C-T
ERepo:
CA2259833/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12618598C>T , CM000665.2:g.12618598C>T | GRCh38 |
| NC_000003.11:g.12660097C>T , CM000665.1:g.12660097C>T | GRCh37 |
| NC_000003.10:g.12635097C>T | NCBI36 |
| NG_007467.1:g.50582G>A , LRG_413:g.50582G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416093.2:c.124G>A | ENSP00000391265.2:p.Ala42Thr | |
| ENST00000423275.6:c.124G>A | ENSP00000401088.1:p.Ala42Thr | |
| ENST00000491290.2:n.501G>A | ||
| ENST00000684903.1:c.124G>A | ENSP00000508612.1:p.Ala42Thr | |
| ENST00000685348.1:c.124G>A | ENSP00000510285.1:p.Ala42Thr | |
| ENST00000685437.1:c.124G>A | ENSP00000508794.1:p.Ala42Thr | |
| ENST00000685653.1:c.124G>A | ENSP00000509968.1:p.Ala42Thr | |
| ENST00000685738.1:c.124G>A | ENSP00000510156.1:p.Ala42Thr | |
| ENST00000685740.1:c.124G>A | ENSP00000510566.1:p.Ala42Thr | |
| ENST00000685959.1:c.124G>A | ENSP00000510452.1:p.Ala42Thr | |
| ENST00000686409.1:n.415G>A | ||
| ENST00000686455.1:n.487G>A | ||
| ENST00000686479.1:n.495G>A | ||
| ENST00000686762.1:c.124G>A | ENSP00000509767.1:p.Ala42Thr | |
| ENST00000687257.1:n.459G>A | ||
| ENST00000687326.1:c.124G>A | ENSP00000509665.1:p.Ala42Thr | |
| ENST00000687348.1:c.124G>A | ENSP00000509787.1:p.Ala42Thr | |
| ENST00000687923.1:c.124G>A | ENSP00000510255.1:p.Ala42Thr | |
| ENST00000687940.1:n.501G>A | ||
| ENST00000688269.1:n.423G>A | ||
| ENST00000688444.1:n.450G>A | ||
| ENST00000688543.1:c.124G>A | ENSP00000509612.1:p.Ala42Thr | |
| ENST00000688625.1:c.124G>A | ENSP00000509522.1:p.Ala42Thr | |
| ENST00000688753.1:c.124G>A | ENSP00000508771.1:p.Ala42Thr | |
| ENST00000688779.1:n.455G>A | ||
| ENST00000688803.1:n.454G>A | ||
| ENST00000689033.1:c.124G>A | ENSP00000508983.1:p.Ala42Thr | |
| ENST00000689097.1:c.124G>A | ENSP00000509756.1:p.Ala42Thr | |
| ENST00000689226.1:c.124G>A | ENSP00000510613.1:p.Ala42Thr | |
| ENST00000689389.1:c.124G>A | ENSP00000510213.1:p.Ala42Thr | |
| ENST00000689418.1:c.124G>A | ENSP00000509467.1:p.Ala42Thr | |
| ENST00000689481.1:c.124G>A | ENSP00000510248.1:p.Ala42Thr | |
| ENST00000689540.1:n.274G>A | ||
| ENST00000689876.1:c.124G>A | ENSP00000508535.1:p.Ala42Thr | |
| ENST00000689914.1:c.124G>A | ENSP00000509847.1:p.Ala42Thr | |
| ENST00000690397.1:c.124G>A | ENSP00000508730.1:p.Ala42Thr | |
| ENST00000690460.1:c.124G>A | ENSP00000509106.1:p.Ala42Thr | |
| ENST00000690625.1:n.427G>A | ||
| ENST00000691396.1:c.124G>A | ENSP00000510712.1:p.Ala42Thr | |
| ENST00000691718.1:c.124G>A | ENSP00000510160.1:p.Ala42Thr | |
| ENST00000691724.1:c.124G>A | ENSP00000509255.1:p.Ala42Thr | |
| ENST00000691779.1:c.124G>A | ENSP00000508592.1:p.Ala42Thr | |
| ENST00000691899.1:c.124G>A | ENSP00000508763.1:p.Ala42Thr | |
| ENST00000692093.1:c.124G>A | ENSP00000509669.1:p.Ala42Thr | |
| ENST00000692311.1:n.497G>A | ||
| ENST00000692558.1:n.489G>A | ||
| ENST00000692773.1:c.124G>A | ENSP00000509055.1:p.Ala42Thr | |
| ENST00000692777.1:n.452G>A | ||
| ENST00000692830.1:c.124G>A | ENSP00000509461.1:p.Ala42Thr | |
| ENST00000692959.1:c.124G>A | ENSP00000509353.1:p.Ala42Thr | |
| ENST00000693069.1:c.124G>A | ENSP00000510072.1:p.Ala42Thr | |
| ENST00000693312.1:c.-18-6536G>A | ENSP00000508686.1:n.-18-6536G>A | |
| ENST00000693664.1:c.124G>A | ENSP00000509614.1:p.Ala42Thr | |
| ENST00000693705.1:c.124G>A | ENSP00000510697.1:p.Ala42Thr | |
| ENST00000251849.9:c.124G>A MANE Select | ENSP00000251849.4:p.Ala42Thr | |
| ENST00000442415.7:c.124G>A | ENSP00000401888.2:p.Ala42Thr | |
| ENST00000251849.8:c.124G>A | ENSP00000251849.4:p.Ala42Thr | |
| ENST00000416093.1:c.124G>A | ENSP00000391265.1:p.Ala42Thr | |
| ENST00000423275.5:c.124G>A | ENSP00000401088.1:p.Ala42Thr | |
| ENST00000442415.6:c.124G>A | ENSP00000401888.2:p.Ala42Thr | |
| NM_002880.3:c.124G>A , LRG_413t1:c.124G>A | NP_002871.1:p.Ala42Thr | |
| XM_005265355.1:c.124G>A | XP_005265412.1:p.Ala42Thr | |
| XM_005265357.1:c.124G>A | XP_005265414.1:p.Ala42Thr | |
| XM_005265358.3:c.-7G>A | XP_005265415.1:n.-7G>A | |
| XM_005265359.3:c.-7G>A | XP_005265416.1:n.-7G>A | |
| XM_005265360.1:c.124G>A | XP_005265417.1:p.Ala42Thr | |
| XM_011533974.1:c.124G>A | XP_011532276.1:p.Ala42Thr | |
| XM_011533975.1:c.-7G>A | XP_011532277.1:n.-7G>A | |
| NM_001354689.1:c.124G>A | NP_001341618.1:p.Ala42Thr | |
| NM_001354690.1:c.124G>A | NP_001341619.1:p.Ala42Thr | |
| NM_001354691.1:c.-7G>A | NP_001341620.1:n.-7G>A | |
| NM_001354692.1:c.-7G>A | NP_001341621.1:n.-7G>A | |
| NM_001354693.1:c.124G>A | NP_001341622.1:p.Ala42Thr | |
| NM_001354694.1:c.-7G>A | NP_001341623.1:n.-7G>A | |
| NM_001354695.1:c.-7G>A | NP_001341624.1:n.-7G>A | |
| NR_148940.1:n.539G>A | ||
| NR_148941.1:n.539G>A | ||
| NR_148942.1:n.539G>A | ||
| XM_011533974.3:c.124G>A | XP_011532276.1:p.Ala42Thr | |
| XM_017006966.1:c.124G>A | XP_016862455.1:p.Ala42Thr | |
| XR_001740227.1:n.455G>A | ||
| NM_001354689.3:c.124G>A | NP_001341618.1:p.Ala42Thr | |
| NM_001354690.2:c.124G>A | NP_001341619.1:p.Ala42Thr | |
| NM_001354691.2:c.-7G>A | NP_001341620.1:n.-7G>A | |
| NM_001354692.2:c.-7G>A | NP_001341621.1:n.-7G>A | |
| NM_001354693.2:c.124G>A | NP_001341622.1:p.Ala42Thr | |
| NM_001354694.2:c.-7G>A | NP_001341623.1:n.-7G>A | |
| NM_001354695.2:c.-7G>A | NP_001341624.1:n.-7G>A | |
| NR_148940.2:n.455G>A | ||
| NR_148941.2:n.455G>A | ||
| NR_148942.2:n.455G>A | ||
| NM_001354690.3:c.124G>A | NP_001341619.1:p.Ala42Thr | |
| NM_001354691.3:c.-7G>A | NP_001341620.1:n.-7G>A | |
| NM_001354692.3:c.-7G>A | NP_001341621.1:n.-7G>A | |
| NM_001354693.3:c.124G>A | NP_001341622.1:p.Ala42Thr | |
| NM_001354694.3:c.-7G>A | NP_001341623.1:n.-7G>A | |
| NM_001354695.3:c.-7G>A | NP_001341624.1:n.-7G>A | |
| NM_002880.4:c.124G>A MANE Select | NP_002871.1:p.Ala42Thr | |
| NR_148940.3:n.455G>A | ||
| NR_148941.3:n.455G>A | ||
| NR_148942.3:n.455G>A |