Linked Data
dbSNP Id:
rs9263697
gnomAD v2:
6-31093581-C-T
gnomAD v3:
6-31125804-C-T
gnomAD v4:
6-31125804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125804C>T , CM000668.2:g.31125804C>T | GRCh38 |
| NC_000006.11:g.31093581C>T , CM000668.1:g.31093581C>T | GRCh37 |
| NC_000006.10:g.31201560C>T | NCBI36 |
| NG_021348.1:g.15974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-100C>T MANE Select | ENSP00000259881.9:n.-100C>T | |
| ENST00000259881.9:c.-100C>T | ENSP00000259881.9:n.-100C>T | |
| ENST00000479581.5:n.61+10913C>T | ||
| ENST00000548049.1:n.245C>T | ||
| ENST00000550838.1:n.124C>T | ||
| ENST00000552747.1:n.53+10913C>T | ||
| NM_014068.2:c.-100C>T | NP_054787.2:n.-100C>T | |
| NM_014068.3:c.-100C>T MANE Select | NP_054787.2:n.-100C>T |