Linked Data
gnomAD v4:
X-154097722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097722C>T , CM000685.2:g.154097722C>T | GRCh38 |
| NC_000023.10:g.153363179C>T , CM000685.1:g.153363179C>T | GRCh37 |
| NC_000023.9:g.153016373C>T | NCBI36 |
| NG_007107.2:g.44400G>A | |
| NG_007107.3:g.44382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.10:c.-217G>A | ENSP00000301948.6:n.-217G>A | |
| ENST00000453960.6:c.-57G>A | ENSP00000395535.2:n.-57G>A | |
| ENST00000619732.4:c.-217G>A | ENSP00000480973.1:n.-217G>A | |
| ENST00000628176.2:c.-217G>A | ENSP00000486978.1:n.-217G>A | |
| ENST00000631210.1:n.305+7059G>A | ||
| NM_001110792.1:c.-57G>A | NP_001104262.1:n.-57G>A | |
| NM_001316337.1:c.-664G>A | NP_001303266.1:n.-664G>A | |
| NM_004992.3:c.-217G>A | NP_004983.1:n.-217G>A |