Linked Data
gnomAD v4:
X-25004906-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004906A>G , CM000685.2:g.25004906A>G | GRCh38 |
| NC_000023.10:g.25023023A>G , CM000685.1:g.25023023A>G | GRCh37 |
| NC_000023.9:g.24932944A>G | NCBI36 |
| NG_008281.1:g.16043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1453T>C MANE Select | ENSP00000368332.4:p.Phe485Leu | |
| ENST00000636885.1:n.41T>C | ||
| ENST00000379044.4:c.1453T>C | ENSP00000368332.4:p.Phe485Leu | |
| NM_139058.2:c.1453T>C | NP_620689.1:p.Phe485Leu | |
| NM_139058.3:c.1453T>C MANE Select | NP_620689.1:p.Phe485Leu |