Linked Data
ClinVar Variation Id:
345288
ClinVar RCV Id:
RCV000264118
dbSNP Id:
rs116661242
gnomAD v2:
3-4402911-C-A
gnomAD v3:
3-4361227-C-A
gnomAD v4:
3-4361227-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4361227C>A , CM000665.2:g.4361227C>A | GRCh38 |
| NC_000003.11:g.4402911C>A , CM000665.1:g.4402911C>A | GRCh37 |
| NC_000003.10:g.4377911C>A | NCBI36 |
| NG_016225.1:g.111056G>T | |
| NG_016225.2:g.111056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272902.10:c.*917G>T MANE Select | ENSP00000272902.5:n.*917G>T | |
| ENST00000272902.9:c.*917G>T | ENSP00000272902.5:n.*917G>T | |
| ENST00000448413.5:c.1014+15103G>T | ENSP00000404384.1:n.1014+15103G>T | |
| NM_001164674.1:c.*917G>T | NP_001158146.1:n.*917G>T | |
| NM_001164675.1:c.*917G>T | NP_001158147.1:n.*917G>T | |
| NM_182760.3:c.*917G>T | NP_877437.2:n.*917G>T | |
| XM_011533623.1:c.1014+15103G>T | XP_011531925.1:n.1014+15103G>T | |
| XM_011533624.1:c.1014+15103G>T | XP_011531926.1:n.1014+15103G>T | |
| XM_011533625.1:c.1014+15103G>T | XP_011531927.1:n.1014+15103G>T | |
| XM_011533626.1:c.1015-9596G>T | XP_011531928.1:n.1015-9596G>T | |
| XM_011533624.3:c.1014+15103G>T | XP_011531926.1:n.1014+15103G>T | |
| XM_011533625.3:c.1014+15103G>T | XP_011531927.1:n.1014+15103G>T | |
| XM_011533626.3:c.1015-9596G>T | XP_011531928.1:n.1015-9596G>T | |
| XM_017006252.2:c.954+49638G>T | XP_016861741.1:n.954+49638G>T | |
| XM_017006253.1:c.939+15103G>T | XP_016861742.1:n.939+15103G>T | |
| XM_017006254.2:c.1014+15103G>T | XP_016861743.1:n.1014+15103G>T | |
| XM_017006255.2:c.1014+15103G>T | XP_016861744.1:n.1014+15103G>T | |
| NM_182760.4:c.*917G>T MANE Select | NP_877437.2:n.*917G>T | |
| NM_001164674.2:c.*917G>T | NP_001158146.1:n.*917G>T | |
| NM_001164675.2:c.*917G>T | NP_001158147.1:n.*917G>T |