Linked Data
ClinVar Variation Id:
2958961
ClinVar RCV Id:
RCV003819160
dbSNP Id:
rs200064555
ExAC:
8:145151412 C / T
gnomAD v2:
8-145151412-C-T
gnomAD v3:
8-144096509-C-T
gnomAD v4:
8-144096509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144096509C>T , CM000670.2:g.144096509C>T | GRCh38 |
| NC_000008.10:g.145151412C>T , CM000670.1:g.145151412C>T | GRCh37 |
| NC_000008.9:g.145223400C>T | NCBI36 |
| NG_033872.1:g.6475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.611+15C>T MANE Select | ENSP00000317159.4:n.611+15C>T | |
| ENST00000318911.4:c.611+15C>T | ENSP00000317159.4:n.611+15C>T | |
| ENST00000525122.1:n.165C>T | ||
| ENST00000528618.1:n.825C>T | ||
| ENST00000533444.1:n.1276+15C>T | ||
| NM_001916.4:c.611+15C>T | NP_001907.2:n.611+15C>T | |
| XM_017013102.1:c.434+15C>T | XP_016868591.1:n.434+15C>T | |
| XM_024447072.1:c.434+15C>T | XP_024302840.1:n.434+15C>T | |
| NM_001916.5:c.611+15C>T MANE Select | NP_001907.3:n.611+15C>T |