Linked Data
gnomAD v4:
2-240868561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868561T>C , CM000664.2:g.240868561T>C | GRCh38 |
| NC_000002.11:g.241807978T>C , CM000664.1:g.241807978T>C | GRCh37 |
| NC_000002.10:g.241456651T>C | NCBI36 |
| NG_008005.1:g.4817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-305T>C | ENSP00000302620.3:n.-305T>C | |
| XR_924060.1:n.405+1672A>G |