Linked Data
ClinVar Variation Id:
204070
ClinVar RCV Id:
RCV000186276
dbSNP Id:
rs180177262
ExAC:
2:241808356 T / G
gnomAD v2:
2-241808356-T-G
gnomAD v4:
2-240868939-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868939T>G , CM000664.2:g.240868939T>G | GRCh38 |
| NC_000002.11:g.241808356T>G , CM000664.1:g.241808356T>G | GRCh37 |
| NC_000002.10:g.241457029T>G | NCBI36 |
| NG_008005.1:g.5195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.74T>G MANE Select | ENSP00000302620.3:p.Leu25Arg | |
| ENST00000307503.3:c.74T>G | ENSP00000302620.3:p.Leu25Arg | |
| ENST00000472436.1:n.94T>G | ||
| NM_000030.2:c.74T>G | NP_000021.1:p.Leu25Arg | |
| XR_924060.1:n.405+1294A>C | ||
| NM_000030.3:c.74T>G MANE Select | NP_000021.1:p.Leu25Arg |