Linked Data
ClinVar Variation Id:
1722666
ClinVar RCV Id:
RCV002305776
dbSNP Id:
rs112950723
gnomAD v4:
X-154531728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154531728C>T , CM000685.2:g.154531728C>T | GRCh38 |
| NC_000023.10:g.153759943C>T , CM000685.1:g.153759943C>T | GRCh37 |
| NC_000023.9:g.153413137C>T | NCBI36 |
| NG_009015.2:g.20845G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.*272G>A | ENSP00000377194.2:n.*272G>A | |
| ENST00000439227.6:c.*272G>A | ENSP00000395599.2:n.*272G>A | |
| ENST00000696420.1:c.1457+460G>A | ENSP00000512615.1:n.1457+460G>A | |
| ENST00000696421.1:c.1457+460G>A | ENSP00000512616.1:n.1457+460G>A | |
| ENST00000696422.1:c.1683G>A | ||
| ENST00000696423.1:c.1686G>A | ||
| ENST00000696424.1:c.1672G>A | ENSP00000512619.1:n.1672G>A | |
| ENST00000696425.1:c.*733G>A | ENSP00000512620.1:n.*733G>A | |
| ENST00000696426.1:c.*1280G>A | ENSP00000512621.1:n.*1280G>A | |
| ENST00000696427.1:c.*780G>A | ENSP00000512622.1:n.*780G>A | |
| ENST00000696428.1:c.*1662G>A | ENSP00000512623.1:n.*1662G>A | |
| ENST00000696429.1:c.*272G>A | ENSP00000512624.1:n.*272G>A | |
| ENST00000696430.1:c.*272G>A | ENSP00000512625.1:n.*272G>A | |
| ENST00000393562.10:c.*272G>A MANE Select | ENSP00000377192.3:n.*272G>A | |
| ENST00000393562.6:c.*272G>A | ENSP00000377192.2:n.*272G>A | |
| ENST00000621232.4:c.*272G>A | ENSP00000483686.1:n.*272G>A | |
| NM_000402.4:c.*272G>A | NP_000393.4:n.*272G>A | |
| NM_001042351.2:c.*272G>A | NP_001035810.1:n.*272G>A | |
| XM_005274657.2:c.*272G>A | XP_005274714.1:n.*272G>A | |
| XM_005274658.2:c.*272G>A | XP_005274715.1:n.*272G>A | |
| NM_001360016.2:c.*272G>A MANE Select | NP_001346945.1:n.*272G>A | |
| NM_001042351.3:c.*272G>A | NP_001035810.1:n.*272G>A |