Linked Data
gnomAD v4:
X-25013450-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013450A>G , CM000685.2:g.25013450A>G | GRCh38 |
| NC_000023.10:g.25031567A>G , CM000685.1:g.25031567A>G | GRCh37 |
| NC_000023.9:g.24941488A>G | NCBI36 |
| NG_008281.1:g.7499T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.545T>C MANE Select | ENSP00000368332.4:p.Phe182Ser | |
| ENST00000379044.4:c.545T>C | ENSP00000368332.4:p.Phe182Ser | |
| NM_139058.2:c.545T>C | NP_620689.1:p.Phe182Ser | |
| NM_139058.3:c.545T>C MANE Select | NP_620689.1:p.Phe182Ser |