Linked Data
ClinVar Variation Id:
350232
dbSNP Id:
rs374775605
ExAC:
4:997791 C / T
gnomAD v2:
4-997791-C-T
gnomAD v3:
4-1004003-C-T
gnomAD v4:
4-1004003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004003C>T , CM000666.2:g.1004003C>T | GRCh38 |
| NC_000004.11:g.997791C>T , CM000666.1:g.997791C>T | GRCh37 |
| NC_000004.10:g.987791C>T | NCBI36 |
| NG_008103.1:g.22007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1728-9C>T | ENSP00000247933.4:n.1728-9C>T | |
| ENST00000514224.2:c.1728-9C>T MANE Select | ENSP00000425081.2:n.1728-9C>T | |
| ENST00000652070.1:n.1784-9C>T | ||
| ENST00000247933.8:c.1728-9C>T | ENSP00000247933.4:n.1728-9C>T | |
| ENST00000514224.1:c.1332-9C>T | ENSP00000425081.1:n.1332-9C>T | |
| ENST00000514698.5:n.1839-9C>T | ||
| NM_000203.4:c.1728-9C>T | NP_000194.2:n.1728-9C>T | |
| NR_110313.1:n.1820-9C>T | ||
| XM_006713882.2:c.1332-9C>T | XP_006713945.1:n.1332-9C>T | |
| XM_011513459.1:c.1794-9C>T | XP_011511761.1:n.1794-9C>T | |
| XM_011513460.1:c.1587-9C>T | XP_011511762.1:n.1587-9C>T | |
| XM_011513461.1:c.1521-9C>T | XP_011511763.1:n.1521-9C>T | |
| XM_011513462.1:c.1440-9C>T | XP_011511764.1:n.1440-9C>T | |
| XM_011513463.1:c.1440-9C>T | XP_011511765.1:n.1440-9C>T | |
| XR_924947.1:n.1988-9C>T | ||
| NM_000203.5:c.1728-9C>T MANE Select | NP_000194.2:n.1728-9C>T | |
| NM_001363576.1:c.1332-9C>T | NP_001350505.1:n.1332-9C>T | |
| XM_011513461.2:c.1521-9C>T | XP_011511763.1:n.1521-9C>T | |
| XM_017008163.1:c.768-9C>T | XP_016863652.1:n.768-9C>T |