Linked Data
ClinVar Variation Id:
386330
dbSNP Id:
rs892404442
gnomAD v3:
2-188974507-A-G
gnomAD v4:
2-188974507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974507A>G , CM000664.2:g.188974507A>G | GRCh38 |
| NC_000002.11:g.189839233A>G , CM000664.1:g.189839233A>G | GRCh37 |
| NC_000002.10:g.189547478A>G | NCBI36 |
| NG_007404.1:g.5135A>G , LRG_3:g.5135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.18A>G | ENSP00000415346.2:p.Gln6= | |
| ENST00000304636.9:c.18A>G MANE Select | ENSP00000304408.4:p.Gln6= | |
| ENST00000304636.7:c.18A>G | ENSP00000304408.3:p.Gln6= | |
| ENST00000317840.9:c.18A>G | ENSP00000315243.6:p.Gln6= | |
| ENST00000470167.1:n.114A>G | ||
| NM_000090.3:c.18A>G , LRG_3t1:c.18A>G | NP_000081.1:p.Gln6= | |
| XR_923687.1:n.1795-4028T>C | ||
| XR_923688.1:n.1795-4028T>C | ||
| XR_923689.1:n.90-4028T>C | ||
| XR_923689.3:n.85-4028T>C | ||
| NM_000090.4:c.18A>G MANE Select | NP_000081.2:p.Gln6= |