Linked Data
gnomAD v4:
X-25013478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013478T>C , CM000685.2:g.25013478T>C | GRCh38 |
| NC_000023.10:g.25031595T>C , CM000685.1:g.25031595T>C | GRCh37 |
| NC_000023.9:g.24941516T>C | NCBI36 |
| NG_008281.1:g.7471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.517A>G MANE Select | ENSP00000368332.4:p.Lys173Glu | |
| ENST00000379044.4:c.517A>G | ENSP00000368332.4:p.Lys173Glu | |
| NM_139058.2:c.517A>G | NP_620689.1:p.Lys173Glu | |
| NM_139058.3:c.517A>G MANE Select | NP_620689.1:p.Lys173Glu |