Linked Data
ClinVar Variation Id:
193474
dbSNP Id:
rs794726954
gnomAD v2:
10-85954517-A-G
gnomAD v3:
10-84194761-A-G
gnomAD v4:
10-84194761-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84194761A>G , CM000672.2:g.84194761A>G | GRCh38 |
| NC_000010.10:g.85954517A>G , CM000672.1:g.85954517A>G | GRCh37 |
| NC_000010.9:g.85944497A>G | NCBI36 |
| NG_028034.1:g.5106A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.1A>G MANE Select | ENSP00000485478.1:p.Met1Val | |
| ENST00000332904.7:c.1A>G | ENSP00000331063.3:p.Met1Val | |
| ENST00000623527.3:c.1A>G | ENSP00000485478.1:p.Met1Val | |
| NM_001171971.2:c.1A>G | NP_001165442.1:p.Met1Val | |
| NM_033100.3:c.1A>G | NP_149091.1:p.Met1Val | |
| XM_011540339.1:c.-379A>G | XP_011538641.1:n.-379A>G | |
| NM_033100.4:c.1A>G MANE Select | NP_149091.1:p.Met1Val | |
| NM_001171971.3:c.1A>G | NP_001165442.1:p.Met1Val |