Linked Data
ClinVar Variation Id:
2729203
ClinVar RCV Id:
RCV003593144
dbSNP Id:
rs1299884849
gnomAD v2:
4-997120-C-A
gnomAD v3:
4-1003332-C-A
gnomAD v4:
4-1003332-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003332C>A , CM000666.2:g.1003332C>A | GRCh38 |
| NC_000004.11:g.997120C>A , CM000666.1:g.997120C>A | GRCh37 |
| NC_000004.10:g.987120C>A | NCBI36 |
| NG_008103.1:g.21336C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.1525-13C>A | ENSP00000247933.4:n.1525-13C>A | |
| ENST00000514224.2:c.1525-13C>A MANE Select | ENSP00000425081.2:n.1525-13C>A | |
| ENST00000652070.1:n.1581-13C>A | ||
| ENST00000247933.8:c.1525-13C>A | ENSP00000247933.4:n.1525-13C>A | |
| ENST00000502829.1:n.501C>A | ||
| ENST00000514224.1:c.1129-13C>A | ENSP00000425081.1:n.1129-13C>A | |
| ENST00000514698.5:n.1632-13C>A | ||
| NM_000203.4:c.1525-13C>A | NP_000194.2:n.1525-13C>A | |
| NR_110313.1:n.1613-13C>A | ||
| XM_006713882.2:c.1129-13C>A | XP_006713945.1:n.1129-13C>A | |
| XM_011513459.1:c.1591-13C>A | XP_011511761.1:n.1591-13C>A | |
| XM_011513460.1:c.1384-13C>A | XP_011511762.1:n.1384-13C>A | |
| XM_011513461.1:c.1318-13C>A | XP_011511763.1:n.1318-13C>A | |
| XM_011513462.1:c.1237-13C>A | XP_011511764.1:n.1237-13C>A | |
| XM_011513463.1:c.1237-13C>A | XP_011511765.1:n.1237-13C>A | |
| XR_924947.1:n.1768C>A | ||
| NM_000203.5:c.1525-13C>A MANE Select | NP_000194.2:n.1525-13C>A | |
| NM_001363576.1:c.1129-13C>A | NP_001350505.1:n.1129-13C>A | |
| XM_011513461.2:c.1318-13C>A | XP_011511763.1:n.1318-13C>A | |
| XM_017008163.1:c.565-13C>A | XP_016863652.1:n.565-13C>A |