Linked Data
ClinVar Variation Id:
383450
ClinVar RCV Id:
RCV000429257
dbSNP Id:
rs777663292
gnomAD v3:
16-29813023-C-T
gnomAD v4:
16-29813023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813023C>T , CM000678.2:g.29813023C>T | GRCh38 |
| NC_000016.9:g.29824344C>T , CM000678.1:g.29824344C>T | GRCh37 |
| NC_000016.8:g.29731845C>T | NCBI36 |
| NG_032039.1:g.5936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.-32C>T MANE Select | ENSP00000351608.7:n.-32C>T | |
| ENST00000567551.2:c.-32C>T | ENSP00000489813.1:n.-32C>T | |
| ENST00000636019.1:n.88-663C>T | ||
| ENST00000636131.1:c.-32C>T | ENSP00000490390.1:n.-32C>T | |
| ENST00000636246.1:c.-32C>T | ENSP00000489948.1:n.-32C>T | |
| ENST00000636619.1:c.-32C>T | ENSP00000489669.1:n.-32C>T | |
| ENST00000637064.1:c.-32C>T | ENSP00000490826.1:n.-32C>T | |
| ENST00000637290.1:c.-32C>T | ENSP00000490278.1:n.-32C>T | |
| ENST00000637403.1:c.-32C>T | ENSP00000489782.1:n.-32C>T | |
| ENST00000637542.1:n.85C>T | ||
| ENST00000637565.1:c.-32C>T | ENSP00000490207.1:n.-32C>T | |
| ENST00000637596.1:c.-32C>T | ENSP00000489805.1:n.-32C>T | |
| ENST00000647876.1:c.-32C>T | ENSP00000498021.1:n.-32C>T | |
| ENST00000300797.7:c.-32C>T | ENSP00000300797.6:n.-32C>T | |
| ENST00000358758.11:c.-32C>T | ENSP00000351608.7:n.-32C>T | |
| ENST00000562148.2:c.-32C>T | ENSP00000454634.2:n.-32C>T | |
| ENST00000567551.1:n.82C>T | ||
| ENST00000567659.3:c.-32C>T | ENSP00000456226.1:n.-32C>T | |
| ENST00000572820.2:c.-32C>T | ENSP00000458291.2:n.-32C>T | |
| ENST00000609618.2:c.-32C>T | ENSP00000476774.2:n.-32C>T | |
| NM_001256442.1:c.-32C>T | NP_001243371.1:n.-32C>T | |
| NM_001256443.1:c.-32C>T | NP_001243372.1:n.-32C>T | |
| NM_145239.2:c.-32C>T | NP_660282.2:n.-32C>T | |
| XM_011545715.1:c.-32C>T | XP_011544017.1:n.-32C>T | |
| XM_011545716.1:c.-32C>T | XP_011544018.1:n.-32C>T | |
| XM_011545717.1:c.-32C>T | XP_011544019.1:n.-32C>T | |
| XM_011545718.1:c.-32C>T | XP_011544020.1:n.-32C>T | |
| XM_011545715.3:c.-32C>T | XP_011544017.1:n.-32C>T | |
| XM_017022887.2:c.-32C>T | XP_016878376.1:n.-32C>T | |
| XM_017022888.2:c.-32C>T | XP_016878377.1:n.-32C>T | |
| XM_017022889.2:c.-32C>T | XP_016878378.1:n.-32C>T | |
| NM_145239.3:c.-32C>T MANE Select | NP_660282.2:n.-32C>T | |
| NM_001256442.2:c.-32C>T | NP_001243371.1:n.-32C>T | |
| NM_001256443.2:c.-32C>T | NP_001243372.1:n.-32C>T |