Linked Data
gnomAD v4:
2-240868816-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868816C>A , CM000664.2:g.240868816C>A | GRCh38 |
| NC_000002.11:g.241808233C>A , CM000664.1:g.241808233C>A | GRCh37 |
| NC_000002.10:g.241456906C>A | NCBI36 |
| NG_008005.1:g.5072C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-50C>A | ENSP00000302620.3:n.-50C>A | |
| NM_000030.2:c.-50C>A | NP_000021.1:n.-50C>A | |
| XR_924060.1:n.405+1417G>T |