Linked Data
ClinVar Variation Id:
329764
dbSNP Id:
rs146417527
gnomAD v2:
19-48345763-C-T
gnomAD v3:
19-47842506-C-T
gnomAD v4:
19-47842506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47842506C>T , CM000681.2:g.47842506C>T | GRCh38 |
| NC_000019.9:g.48345763C>T , CM000681.1:g.48345763C>T | GRCh37 |
| NC_000019.8:g.53037575C>T | NCBI36 |
| NG_008605.1:g.25665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.*2539C>T MANE Select | ENSP00000221996.5:n.*2539C>T | |
| ENST00000221996.11:c.*2539C>T | ENSP00000221996.5:n.*2539C>T | |
| ENST00000539067.5:c.*467-48C>T | ENSP00000445565.1:n.*467-48C>T | |
| ENST00000602001.1:n.46-6C>T | ||
| ENST00000613299.1:c.*3161C>T | ENSP00000478106.1:n.*3161C>T | |
| NM_000554.4:c.*2539C>T | NP_000545.1:n.*2539C>T | |
| NM_000554.5:c.*2539C>T | NP_000545.1:n.*2539C>T | |
| NM_000554.6:c.*2539C>T MANE Select | NP_000545.1:n.*2539C>T |