Linked Data
gnomAD v4:
X-153690444-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690444C>A , CM000685.2:g.153690444C>A | GRCh38 |
| NC_000023.10:g.152955899C>A , CM000685.1:g.152955899C>A | GRCh37 |
| NC_000023.9:g.152609093C>A | NCBI36 |
| NG_012016.1:g.7148C>A | |
| NG_012016.2:g.7148C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.332C>A MANE Select | ENSP00000253122.5:p.Ser111Ter | |
| ENST00000675713.1:n.86C>A | ||
| ENST00000253122.9:c.332C>A | ENSP00000253122.5:p.Ser111Ter | |
| ENST00000430077.6:c.-14C>A | ENSP00000403041.2:n.-14C>A | |
| ENST00000476466.1:n.184C>A | ||
| NM_001142805.1:c.332C>A | NP_001136277.1:p.Ser111Ter | |
| NM_001142806.1:c.-14C>A | NP_001136278.1:n.-14C>A | |
| NM_005629.3:c.332C>A | NP_005620.1:p.Ser111Ter | |
| NM_005629.4:c.332C>A MANE Select | NP_005620.1:p.Ser111Ter | |
| NM_001142805.2:c.332C>A | NP_001136277.1:p.Ser111Ter |