Linked Data
gnomAD v4:
2-240868751-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868751C>G , CM000664.2:g.240868751C>G | GRCh38 |
| NC_000002.11:g.241808168C>G , CM000664.1:g.241808168C>G | GRCh37 |
| NC_000002.10:g.241456841C>G | NCBI36 |
| NG_008005.1:g.5007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-115C>G | ENSP00000302620.3:n.-115C>G | |
| NM_000030.2:c.-115C>G | NP_000021.1:n.-115C>G | |
| XR_924060.1:n.405+1482G>C |