Linked Data
gnomAD v4:
X-30304501-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304501T>G , CM000685.2:g.30304501T>G | GRCh38 |
| NC_000023.10:g.30322618T>G , CM000685.1:g.30322618T>G | GRCh37 |
| NC_000023.9:g.30232539T>G | NCBI36 |
| NG_009814.1:g.9878A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*78A>C MANE Select | ENSP00000368253.4:n.*78A>C | |
| ENST00000378970.4:c.*78A>C | ENSP00000368253.4:n.*78A>C | |
| NM_000475.4:c.*78A>C | NP_000466.2:n.*78A>C | |
| NM_000475.5:c.*78A>C MANE Select | NP_000466.2:n.*78A>C |