Linked Data
ClinVar Variation Id:
1960327
ClinVar RCV Id:
RCV002715425
dbSNP Id:
rs554988776
gnomAD v2:
12-49579777-T-C
gnomAD v3:
12-49185994-T-C
gnomAD v4:
12-49185994-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185994T>C , CM000674.2:g.49185994T>C | GRCh38 |
| NC_000012.11:g.49579777T>C , CM000674.1:g.49579777T>C | GRCh37 |
| NC_000012.10:g.47866044T>C | NCBI36 |
| NG_008966.1:g.8085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.376-4A>G MANE Select | ENSP00000301071.7:n.376-4A>G | |
| ENST00000547939.6:c.271-4A>G | ENSP00000450268.2:n.271-4A>G | |
| ENST00000550767.6:c.271-4A>G | ENSP00000446637.1:n.271-4A>G | |
| ENST00000550811.2:n.1409-4A>G | ||
| ENST00000552924.2:c.271-4A>G | ENSP00000448725.2:n.271-4A>G | |
| ENST00000679733.1:c.399-4A>G | ENSP00000505459.1:n.399-4A>G | |
| ENST00000295766.9:c.376-4A>G | ENSP00000439020.2:n.376-4A>G | |
| ENST00000301071.11:c.376-4A>G | ENSP00000301071.7:n.376-4A>G | |
| ENST00000546918.1:c.528-4A>G | ENSP00000446613.1:n.528-4A>G | |
| ENST00000547939.5:c.271-4A>G | ENSP00000450268.1:n.271-4A>G | |
| ENST00000550767.5:c.271-4A>G | ENSP00000446637.1:n.271-4A>G | |
| ENST00000552924.1:c.271-4A>G | ENSP00000448725.1:n.271-4A>G | |
| NM_001270399.1:c.376-4A>G | NP_001257328.1:n.376-4A>G | |
| NM_001270400.1:c.271-4A>G | NP_001257329.1:n.271-4A>G | |
| NM_006009.3:c.376-4A>G | NP_006000.2:n.376-4A>G | |
| NM_006009.4:c.376-4A>G MANE Select | NP_006000.2:n.376-4A>G | |
| NM_001270399.2:c.376-4A>G | NP_001257328.1:n.376-4A>G | |
| NM_001270400.2:c.271-4A>G | NP_001257329.1:n.271-4A>G |