Linked Data
gnomAD v4:
X-30304500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304500T>C , CM000685.2:g.30304500T>C | GRCh38 |
| NC_000023.10:g.30322617T>C , CM000685.1:g.30322617T>C | GRCh37 |
| NC_000023.9:g.30232538T>C | NCBI36 |
| NG_009814.1:g.9879A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*79A>G MANE Select | ENSP00000368253.4:n.*79A>G | |
| ENST00000378970.4:c.*79A>G | ENSP00000368253.4:n.*79A>G | |
| NM_000475.4:c.*79A>G | NP_000466.2:n.*79A>G | |
| NM_000475.5:c.*79A>G MANE Select | NP_000466.2:n.*79A>G |