Linked Data
ClinVar Variation Id:
927140
dbSNP Id:
rs1372036761
gnomAD v3:
2-188994246-A-G
gnomAD v4:
2-188994246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994246A>G , CM000664.2:g.188994246A>G | GRCh38 |
| NC_000002.11:g.189858972A>G , CM000664.1:g.189858972A>G | GRCh37 |
| NC_000002.10:g.189567217A>G | NCBI36 |
| NG_007404.1:g.24874A>G , LRG_3:g.24874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1108A>G | ENSP00000415346.2:p.Ile370Val | |
| ENST00000304636.9:c.1207A>G MANE Select | ENSP00000304408.4:p.Ile403Val | |
| ENST00000304636.7:c.1207A>G | ENSP00000304408.3:p.Ile403Val | |
| ENST00000317840.9:c.1207A>G | ENSP00000315243.6:p.Ile403Val | |
| ENST00000450867.1:c.206A>G | ||
| NM_000090.3:c.1207A>G , LRG_3t1:c.1207A>G | NP_000081.1:p.Ile403Val | |
| NM_000090.4:c.1207A>G MANE Select | NP_000081.2:p.Ile403Val |