Linked Data
ClinVar Variation Id:
749894
ClinVar RCV Id:
RCV000926822
dbSNP Id:
rs900156149
gnomAD v2:
2-241808354-C-G
gnomAD v3:
2-240868937-C-G
gnomAD v4:
2-240868937-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868937C>G , CM000664.2:g.240868937C>G | GRCh38 |
| NC_000002.11:g.241808354C>G , CM000664.1:g.241808354C>G | GRCh37 |
| NC_000002.10:g.241457027C>G | NCBI36 |
| NG_008005.1:g.5193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.72C>G MANE Select | ENSP00000302620.3:p.Leu24= | |
| ENST00000307503.3:c.72C>G | ENSP00000302620.3:p.Leu24= | |
| ENST00000472436.1:n.92C>G | ||
| NM_000030.2:c.72C>G | NP_000021.1:p.Leu24= | |
| XR_924060.1:n.405+1296G>C | ||
| NM_000030.3:c.72C>G MANE Select | NP_000021.1:p.Leu24= |