Linked Data
gnomAD v4:
X-78118136-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118136A>T , CM000685.2:g.78118136A>T | GRCh38 |
| NC_000023.10:g.77373633A>T , CM000685.1:g.77373633A>T | GRCh37 |
| NC_000023.9:g.77260289A>T | NCBI36 |
| NG_008862.1:g.18968A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.607A>T MANE Select | ENSP00000362413.4:p.Ser203Cys | |
| ENST00000644362.1:c.523A>T | ENSP00000496140.1:p.Ser175Cys | |
| ENST00000373316.4:c.607A>T | ENSP00000362413.4:p.Ser203Cys | |
| ENST00000491291.1:n.599A>T | ||
| NM_000291.3:c.607A>T | NP_000282.1:p.Ser203Cys | |
| NM_000291.4:c.607A>T MANE Select | NP_000282.1:p.Ser203Cys |