Linked Data
dbSNP Id:
rs200479640
ExAC:
6:108883068 C / G
gnomAD v2:
6-108883068-C-G
gnomAD v3:
6-108561865-C-G
gnomAD v4:
6-108561865-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561865C>G , CM000668.2:g.108561865C>G | GRCh38 |
| NC_000006.11:g.108883068C>G , CM000668.1:g.108883068C>G | GRCh37 |
| NC_000006.10:g.108989761C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.621+36C>G MANE Select | ENSP00000385824.1:n.621+36C>G | |
| ENST00000343882.10:c.621+36C>G | ENSP00000339527.6:n.621+36C>G | |
| ENST00000406360.1:c.621+36C>G | ENSP00000385824.1:n.621+36C>G | |
| NM_001455.3:c.621+36C>G | NP_001446.1:n.621+36C>G | |
| NM_201559.2:c.621+36C>G | NP_963853.1:n.621+36C>G | |
| XM_005266867.3:c.-64+36C>G | XP_005266924.1:n.-64+36C>G | |
| XM_005266867.4:c.-64+36C>G | XP_005266924.1:n.-64+36C>G | |
| NM_001455.4:c.621+36C>G MANE Select | NP_001446.1:n.621+36C>G | |
| NM_201559.3:c.621+36C>G | NP_963853.1:n.621+36C>G |