Linked Data
ClinVar Variation Id:
345299
ClinVar RCV Id:
RCV000390280
dbSNP Id:
rs10514655
gnomAD v2:
3-4403276-A-C
gnomAD v3:
3-4361592-A-C
gnomAD v4:
3-4361592-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4361592A>C , CM000665.2:g.4361592A>C | GRCh38 |
| NC_000003.11:g.4403276A>C , CM000665.1:g.4403276A>C | GRCh37 |
| NC_000003.10:g.4378276A>C | NCBI36 |
| NG_016225.1:g.110691T>G | |
| NG_016225.2:g.110691T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272902.10:c.*552T>G MANE Select | ENSP00000272902.5:n.*552T>G | |
| ENST00000272902.9:c.*552T>G | ENSP00000272902.5:n.*552T>G | |
| ENST00000448413.5:c.1014+14738T>G | ENSP00000404384.1:n.1014+14738T>G | |
| NM_001164674.1:c.*552T>G | NP_001158146.1:n.*552T>G | |
| NM_001164675.1:c.*552T>G | NP_001158147.1:n.*552T>G | |
| NM_182760.3:c.*552T>G | NP_877437.2:n.*552T>G | |
| XM_011533623.1:c.1014+14738T>G | XP_011531925.1:n.1014+14738T>G | |
| XM_011533624.1:c.1014+14738T>G | XP_011531926.1:n.1014+14738T>G | |
| XM_011533625.1:c.1014+14738T>G | XP_011531927.1:n.1014+14738T>G | |
| XM_011533626.1:c.1015-9961T>G | XP_011531928.1:n.1015-9961T>G | |
| XM_011533624.3:c.1014+14738T>G | XP_011531926.1:n.1014+14738T>G | |
| XM_011533625.3:c.1014+14738T>G | XP_011531927.1:n.1014+14738T>G | |
| XM_011533626.3:c.1015-9961T>G | XP_011531928.1:n.1015-9961T>G | |
| XM_017006252.2:c.954+49273T>G | XP_016861741.1:n.954+49273T>G | |
| XM_017006253.1:c.939+14738T>G | XP_016861742.1:n.939+14738T>G | |
| XM_017006254.2:c.1014+14738T>G | XP_016861743.1:n.1014+14738T>G | |
| XM_017006255.2:c.1014+14738T>G | XP_016861744.1:n.1014+14738T>G | |
| NM_182760.4:c.*552T>G MANE Select | NP_877437.2:n.*552T>G | |
| NM_001164674.2:c.*552T>G | NP_001158146.1:n.*552T>G | |
| NM_001164675.2:c.*552T>G | NP_001158147.1:n.*552T>G |