Linked Data
gnomAD v4:
2-216121946-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216121946T>G , CM000664.2:g.216121946T>G | GRCh38 |
| NC_000002.11:g.216986669T>G , CM000664.1:g.216986669T>G | GRCh37 |
| NC_000002.10:g.216694914T>G | NCBI36 |
| NG_029780.1:g.17650T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.492-116T>G MANE Select | ENSP00000375977.2:n.492-116T>G | |
| ENST00000392132.6:c.492-116T>G | ENSP00000375977.2:n.492-116T>G | |
| ENST00000392133.7:c.492-116T>G | ENSP00000375978.3:n.492-116T>G | |
| ENST00000460284.5:n.1034-116T>G | ||
| NM_021141.3:c.492-116T>G | NP_066964.1:n.492-116T>G | |
| NM_021141.4:c.492-116T>G MANE Select | NP_066964.1:n.492-116T>G |