Linked Data
ClinVar Variation Id:
2993935
ClinVar RCV Id:
RCV003853510
gnomAD v3:
X-154532179-T-A
gnomAD v4:
X-154532179-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532179T>A , CM000685.2:g.154532179T>A | GRCh38 |
| NC_000023.10:g.153760394T>A , CM000685.1:g.153760394T>A | GRCh37 |
| NC_000023.9:g.153413588T>A | NCBI36 |
| NG_009015.2:g.20394A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.1457+9A>T | ENSP00000377194.2:n.1457+9A>T | |
| ENST00000439227.6:c.1460+9A>T | ENSP00000395599.2:n.1460+9A>T | |
| ENST00000696420.1:c.1457+9A>T | ENSP00000512615.1:n.1457+9A>T | |
| ENST00000696421.1:c.1457+9A>T | ENSP00000512616.1:n.1457+9A>T | |
| ENST00000696422.1:c.1320+9A>T | ||
| ENST00000696423.1:c.1323+9A>T | ||
| ENST00000696424.1:c.1309+9A>T | ENSP00000512619.1:n.1309+9A>T | |
| ENST00000696425.1:c.*370+9A>T | ENSP00000512620.1:n.*370+9A>T | |
| ENST00000696426.1:c.*917+9A>T | ENSP00000512621.1:n.*917+9A>T | |
| ENST00000696427.1:c.*417+9A>T | ENSP00000512622.1:n.*417+9A>T | |
| ENST00000696428.1:c.*1299+9A>T | ENSP00000512623.1:n.*1299+9A>T | |
| ENST00000696429.1:c.1457+9A>T | ENSP00000512624.1:n.1457+9A>T | |
| ENST00000696430.1:c.1457+9A>T | ENSP00000512625.1:n.1457+9A>T | |
| ENST00000393562.10:c.1457+9A>T MANE Select | ENSP00000377192.3:n.1457+9A>T | |
| ENST00000369620.6:c.1595+9A>T | ENSP00000358633.2:n.1595+9A>T | |
| ENST00000393562.6:c.1547+9A>T | ENSP00000377192.2:n.1547+9A>T | |
| ENST00000393564.6:c.1457+9A>T | ENSP00000377194.2:n.1457+9A>T | |
| ENST00000490651.1:n.687A>T | ||
| ENST00000621232.4:c.1457+9A>T | ENSP00000483686.1:n.1457+9A>T | |
| NM_000402.4:c.1547+9A>T | NP_000393.4:n.1547+9A>T | |
| NM_001042351.2:c.1457+9A>T | NP_001035810.1:n.1457+9A>T | |
| XM_005274657.2:c.1550+9A>T | XP_005274714.1:n.1550+9A>T | |
| XM_005274658.2:c.1460+9A>T | XP_005274715.1:n.1460+9A>T | |
| NM_001360016.2:c.1457+9A>T MANE Select | NP_001346945.1:n.1457+9A>T | |
| NM_001042351.3:c.1457+9A>T | NP_001035810.1:n.1457+9A>T |