Linked Data
gnomAD v4:
X-30304482-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304482A>C , CM000685.2:g.30304482A>C | GRCh38 |
| NC_000023.10:g.30322599A>C , CM000685.1:g.30322599A>C | GRCh37 |
| NC_000023.9:g.30232520A>C | NCBI36 |
| NG_009814.1:g.9897T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*97T>G MANE Select | ENSP00000368253.4:n.*97T>G | |
| ENST00000378970.4:c.*97T>G | ENSP00000368253.4:n.*97T>G | |
| NM_000475.4:c.*97T>G | NP_000466.2:n.*97T>G | |
| NM_000475.5:c.*97T>G MANE Select | NP_000466.2:n.*97T>G |