Linked Data
ClinVar Variation Id:
1677853
ClinVar RCV Id:
RCV002223534
dbSNP Id:
rs2106427685
gnomAD v4:
2-240869359-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869359A>G , CM000664.2:g.240869359A>G | GRCh38 |
| NC_000002.11:g.241808776A>G , CM000664.1:g.241808776A>G | GRCh37 |
| NC_000002.10:g.241457449A>G | NCBI36 |
| NG_008005.1:g.5615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.355A>G MANE Select | ENSP00000302620.3:p.Ile119Val | |
| ENST00000307503.3:c.355A>G | ENSP00000302620.3:p.Ile119Val | |
| ENST00000472436.1:n.375A>G | ||
| NM_000030.2:c.355A>G | NP_000021.1:p.Ile119Val | |
| XR_924060.1:n.405+874T>C | ||
| NM_000030.3:c.355A>G MANE Select | NP_000021.1:p.Ile119Val |