Linked Data
gnomAD v4:
2-218270432-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270432T>C , CM000664.2:g.218270432T>C | GRCh38 |
| NC_000002.11:g.219135155T>C , CM000664.1:g.219135155T>C | GRCh37 |
| NC_000002.10:g.218843399T>C | NCBI36 |
| NG_017060.1:g.5041T>C | |
| NG_033036.1:g.4739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691799.1:n.70+712T>C | ||
| ENST00000248451.7:c.-104T>C | ENSP00000248451.3:n.-104T>C | |
| NM_001077399.2:c.-104T>C | NP_001070867.1:n.-104T>C | |
| NM_015488.4:c.-104T>C | NP_056303.3:n.-104T>C |