Linked Data
gnomAD v4:
11-70206099-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206099C>G , CM000673.2:g.70206099C>G | GRCh38 |
| NC_000011.9:g.70052205C>G , CM000673.1:g.70052205C>G | GRCh37 |
| NC_000011.8:g.69729853C>G | NCBI36 |
| NG_027966.1:g.7937C>G , LRG_228:g.7937C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.287-34C>G MANE Select | ENSP00000301838.5:n.287-34C>G | |
| ENST00000301838.4:c.287-34C>G | ENSP00000301838.4:n.287-34C>G | |
| NM_003824.3:c.287-34C>G , LRG_228t1:c.287-34C>G | NP_003815.1:n.287-34C>G | |
| NM_003824.4:c.287-34C>G MANE Select | NP_003815.1:n.287-34C>G |