Linked Data
gnomAD v4:
X-54495151-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495151G>C , CM000685.2:g.54495151G>C | GRCh38 |
| NC_000023.10:g.54521584G>C , CM000685.1:g.54521584G>C | GRCh37 |
| NC_000023.9:g.54538309G>C | NCBI36 |
| NG_008054.1:g.6016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.282C>G MANE Select | ENSP00000364277.3:p.His94Gln | |
| ENST00000375135.3:c.282C>G | ENSP00000364277.3:p.His94Gln | |
| NM_004463.2:c.282C>G | NP_004454.2:p.His94Gln | |
| NM_004463.3:c.282C>G MANE Select | NP_004454.2:p.His94Gln |