Linked Data
dbSNP Id:
rs1536057
gnomAD v2:
6-108885623-C-T
gnomAD v3:
6-108564420-C-T
gnomAD v4:
6-108564420-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108564420C>T , CM000668.2:g.108564420C>T | GRCh38 |
| NC_000006.11:g.108885623C>T , CM000668.1:g.108885623C>T | GRCh37 |
| NC_000006.10:g.108992316C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406360.2:c.621+2591C>T MANE Select | ENSP00000385824.1:n.621+2591C>T | |
| ENST00000343882.10:c.621+2591C>T | ENSP00000339527.6:n.621+2591C>T | |
| ENST00000406360.1:c.621+2591C>T | ENSP00000385824.1:n.621+2591C>T | |
| NM_001455.3:c.621+2591C>T | NP_001446.1:n.621+2591C>T | |
| NM_201559.2:c.621+2591C>T | NP_963853.1:n.621+2591C>T | |
| XM_005266867.3:c.-64+2591C>T | XP_005266924.1:n.-64+2591C>T | |
| XM_011535626.1:c.120+2277C>T | XP_011533928.1:n.120+2277C>T | |
| XM_005266867.4:c.-64+2591C>T | XP_005266924.1:n.-64+2591C>T | |
| XM_011535626.2:c.120+2277C>T | XP_011533928.1:n.120+2277C>T | |
| NM_001455.4:c.621+2591C>T MANE Select | NP_001446.1:n.621+2591C>T | |
| NM_201559.3:c.621+2591C>T | NP_963853.1:n.621+2591C>T |