Linked Data
dbSNP Id:
rs13220810
gnomAD v2:
6-108913201-T-C
gnomAD v3:
6-108591998-T-C
gnomAD v4:
6-108591998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108591998T>C , CM000668.2:g.108591998T>C | GRCh38 |
| NC_000006.11:g.108913201T>C , CM000668.1:g.108913201T>C | GRCh37 |
| NC_000006.10:g.109019894T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406360.2:c.621+30169T>C MANE Select | ENSP00000385824.1:n.621+30169T>C | |
| ENST00000343882.10:c.621+30169T>C | ENSP00000339527.6:n.621+30169T>C | |
| ENST00000406360.1:c.621+30169T>C | ENSP00000385824.1:n.621+30169T>C | |
| NM_001455.3:c.621+30169T>C | NP_001446.1:n.621+30169T>C | |
| NM_201559.2:c.621+30169T>C | NP_963853.1:n.621+30169T>C | |
| XM_005266867.3:c.-64+30169T>C | XP_005266924.1:n.-64+30169T>C | |
| XM_011535626.1:c.120+29855T>C | XP_011533928.1:n.120+29855T>C | |
| XM_011535627.1:c.69+5362T>C | XP_011533929.1:n.69+5362T>C | |
| XM_011535628.1:c.-40+2183T>C | XP_011533930.1:n.-40+2183T>C | |
| XM_005266867.4:c.-64+30169T>C | XP_005266924.1:n.-64+30169T>C | |
| XM_011535626.2:c.120+29855T>C | XP_011533928.1:n.120+29855T>C | |
| XM_011535628.3:c.-40+2183T>C | XP_011533930.1:n.-40+2183T>C | |
| XM_017010585.1:c.-64+22256T>C | XP_016866074.1:n.-64+22256T>C | |
| XM_017010586.1:c.-40+22256T>C | XP_016866075.1:n.-40+22256T>C | |
| NM_001455.4:c.621+30169T>C MANE Select | NP_001446.1:n.621+30169T>C | |
| NM_201559.3:c.621+30169T>C | NP_963853.1:n.621+30169T>C |