Linked Data
gnomAD v4:
X-153770256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153770256G>A , CM000685.2:g.153770256G>A | GRCh38 |
| NC_000023.10:g.153035711G>A , CM000685.1:g.153035711G>A | GRCh37 |
| NC_000023.9:g.152688905G>A | NCBI36 |
| NG_013255.1:g.11061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361971.10:c.1786+8G>A MANE Select | ENSP00000355378.5:n.1786+8G>A | |
| ENST00000361971.9:c.1786+8G>A | ENSP00000355378.5:n.1786+8G>A | |
| ENST00000538966.5:c.1855+8G>A | ENSP00000442736.1:n.1855+8G>A | |
| NM_001163257.1:c.1855+8G>A | NP_001156729.1:n.1855+8G>A | |
| NM_005393.2:c.1786+8G>A | NP_005384.2:n.1786+8G>A | |
| NM_005393.3:c.1786+8G>A MANE Select | NP_005384.2:n.1786+8G>A | |
| NM_001163257.2:c.1855+8G>A | NP_001156729.1:n.1855+8G>A |