Linked Data
gnomAD v4:
X-46837207-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837207T>G , CM000685.2:g.46837207T>G | GRCh38 |
| NC_000023.10:g.46696642T>G , CM000685.1:g.46696642T>G | GRCh37 |
| NC_000023.9:g.46581586T>G | NCBI36 |
| NG_009107.1:g.5296T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.102+5T>G MANE Select | ENSP00000218340.3:n.102+5T>G | |
| ENST00000218340.3:c.102+5T>G | ENSP00000218340.3:n.102+5T>G | |
| NM_006915.2:c.102+5T>G | NP_008846.2:n.102+5T>G | |
| NM_006915.3:c.102+5T>G MANE Select | NP_008846.2:n.102+5T>G |