Linked Data
gnomAD v4:
X-153690487-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690487C>A , CM000685.2:g.153690487C>A | GRCh38 |
| NC_000023.10:g.152955942C>A , CM000685.1:g.152955942C>A | GRCh37 |
| NC_000023.9:g.152609136C>A | NCBI36 |
| NG_012016.1:g.7191C>A | |
| NG_012016.2:g.7191C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.375C>A MANE Select | ENSP00000253122.5:p.Asn125Lys | |
| ENST00000675713.1:n.129C>A | ||
| ENST00000253122.9:c.375C>A | ENSP00000253122.5:p.Asn125Lys | |
| ENST00000430077.6:c.30C>A | ENSP00000403041.2:p.Asn10Lys | |
| ENST00000476466.1:n.227C>A | ||
| NM_001142805.1:c.375C>A | NP_001136277.1:p.Asn125Lys | |
| NM_001142806.1:c.30C>A | NP_001136278.1:p.Asn10Lys | |
| NM_005629.3:c.375C>A | NP_005620.1:p.Asn125Lys | |
| NM_005629.4:c.375C>A MANE Select | NP_005620.1:p.Asn125Lys | |
| NM_001142805.2:c.375C>A | NP_001136277.1:p.Asn125Lys |