Linked Data
ClinVar Variation Id:
389794
ClinVar RCV Id:
RCV000434901
dbSNP Id:
rs772388120
ExAC:
16:30767894 C / T
gnomAD v2:
16-30767894-C-T
gnomAD v3:
16-30756573-C-T
gnomAD v4:
16-30756573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756573C>T , CM000678.2:g.30756573C>T | GRCh38 |
| NC_000016.9:g.30767894C>T , CM000678.1:g.30767894C>T | GRCh37 |
| NC_000016.8:g.30675395C>T | NCBI36 |
| NG_016616.1:g.13275C>T | |
| NG_016616.2:g.13275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563588.6:c.802-17C>T MANE Select | ENSP00000455607.1:n.802-17C>T | |
| ENST00000328273.11:c.814-17C>T | ENSP00000329968.7:n.814-17C>T | |
| ENST00000424889.7:c.802-17C>T | ENSP00000388571.3:n.802-17C>T | |
| ENST00000563588.5:c.802-17C>T | ENSP00000455607.1:n.802-17C>T | |
| ENST00000563913.5:n.1135-17C>T | ||
| ENST00000564838.5:n.931-17C>T | ||
| NM_000294.2:c.802-17C>T | NP_000285.1:n.802-17C>T | |
| NM_001172432.1:c.802-17C>T | NP_001165903.1:n.802-17C>T | |
| NM_000294.3:c.802-17C>T MANE Select | NP_000285.1:n.802-17C>T | |
| NM_001172432.2:c.802-17C>T | NP_001165903.1:n.802-17C>T |