Linked Data
ClinVar Variation Id:
204102
ClinVar RCV Id:
RCV000186308
dbSNP Id:
rs180177223
gnomAD v2:
2-241810799-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871382T>G , CM000664.2:g.240871382T>G | GRCh38 |
| NC_000002.11:g.241810799T>G , CM000664.1:g.241810799T>G | GRCh37 |
| NC_000002.10:g.241459472T>G | NCBI36 |
| NG_008005.1:g.7638T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.457T>G MANE Select | ENSP00000302620.3:p.Leu153Val | |
| ENST00000307503.3:c.457T>G | ENSP00000302620.3:p.Leu153Val | |
| ENST00000472436.1:n.477T>G | ||
| ENST00000476698.1:n.194T>G | ||
| NM_000030.2:c.457T>G | NP_000021.1:p.Leu153Val | |
| NM_000030.3:c.457T>G MANE Select | NP_000021.1:p.Leu153Val |