Linked Data
ClinVar Variation Id:
1924779
ClinVar RCV Id:
RCV002634906
dbSNP Id:
rs752514481
ExAC:
12:50497891 A / G
gnomAD v2:
12-50497891-A-G
gnomAD v3:
12-50104108-A-G
gnomAD v4:
12-50104108-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50104108A>G , CM000674.2:g.50104108A>G | GRCh38 |
| NC_000012.11:g.50497891A>G , CM000674.1:g.50497891A>G | GRCh37 |
| NC_000012.10:g.48784158A>G | NCBI36 |
| NG_032168.1:g.5290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.41+17A>G MANE Select | ENSP00000301149.3:n.41+17A>G | |
| ENST00000301149.7:c.41+17A>G | ENSP00000301149.3:n.41+17A>G | |
| ENST00000547190.5:n.84+17A>G | ||
| ENST00000547964.5:c.41+17A>G | ENSP00000448244.1:n.41+17A>G | |
| ENST00000548814.1:c.41+17A>G | ENSP00000446768.1:n.41+17A>G | |
| ENST00000551939.5:n.84+17A>G | ||
| NM_001257199.1:c.41+17A>G | NP_001244128.1:n.41+17A>G | |
| NM_005276.3:c.41+17A>G | NP_005267.2:n.41+17A>G | |
| NM_005276.4:c.41+17A>G MANE Select | NP_005267.2:n.41+17A>G | |
| NM_001257199.2:c.41+17A>G | NP_001244128.1:n.41+17A>G |