Linked Data
ClinVar Variation Id:
1985110
ClinVar RCV Id:
RCV002780539
gnomAD v4:
4-1003544-C-T
MyVariant Identifiers:
chr4:g.997332C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003544C>T , CM000666.2:g.1003544C>T | GRCh38 |
| NC_000004.11:g.997332C>T , CM000666.1:g.997332C>T | GRCh37 |
| NC_000004.10:g.987332C>T | NCBI36 |
| NG_008103.1:g.21548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1651-5C>T | ENSP00000247933.4:n.1651-5C>T | |
| ENST00000514224.2:c.1651-5C>T MANE Select | ENSP00000425081.2:n.1651-5C>T | |
| ENST00000652070.1:n.1707-5C>T | ||
| ENST00000247933.8:c.1651-5C>T | ENSP00000247933.4:n.1651-5C>T | |
| ENST00000514224.1:c.1255-5C>T | ENSP00000425081.1:n.1255-5C>T | |
| ENST00000514417.1:n.43-5C>T | ||
| ENST00000514698.5:n.1758-5C>T | ||
| NM_000203.4:c.1651-5C>T | NP_000194.2:n.1651-5C>T | |
| NR_110313.1:n.1739-5C>T | ||
| XM_006713882.2:c.1255-5C>T | XP_006713945.1:n.1255-5C>T | |
| XM_011513459.1:c.1717-5C>T | XP_011511761.1:n.1717-5C>T | |
| XM_011513460.1:c.1510-5C>T | XP_011511762.1:n.1510-5C>T | |
| XM_011513461.1:c.1444-5C>T | XP_011511763.1:n.1444-5C>T | |
| XM_011513462.1:c.1363-5C>T | XP_011511764.1:n.1363-5C>T | |
| XM_011513463.1:c.1363-5C>T | XP_011511765.1:n.1363-5C>T | |
| XR_924947.1:n.1907-5C>T | ||
| NM_000203.5:c.1651-5C>T MANE Select | NP_000194.2:n.1651-5C>T | |
| NM_001363576.1:c.1255-5C>T | NP_001350505.1:n.1255-5C>T | |
| XM_011513461.2:c.1444-5C>T | XP_011511763.1:n.1444-5C>T | |
| XM_017008163.1:c.691-5C>T | XP_016863652.1:n.691-5C>T |