Linked Data
ClinVar Variation Id:
1269978
ClinVar RCV Id:
RCV001684136
dbSNP Id:
rs2802292
gnomAD v2:
6-108908518-G-T
gnomAD v3:
6-108587315-G-T
gnomAD v4:
6-108587315-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108587315G>T , CM000668.2:g.108587315G>T | GRCh38 |
| NC_000006.11:g.108908518G>T , CM000668.1:g.108908518G>T | GRCh37 |
| NC_000006.10:g.109015211G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406360.2:c.621+25486G>T MANE Select | ENSP00000385824.1:n.621+25486G>T | |
| ENST00000343882.10:c.621+25486G>T | ENSP00000339527.6:n.621+25486G>T | |
| ENST00000406360.1:c.621+25486G>T | ENSP00000385824.1:n.621+25486G>T | |
| NM_001455.3:c.621+25486G>T | NP_001446.1:n.621+25486G>T | |
| NM_201559.2:c.621+25486G>T | NP_963853.1:n.621+25486G>T | |
| XM_005266867.3:c.-64+25486G>T | XP_005266924.1:n.-64+25486G>T | |
| XM_011535626.1:c.120+25172G>T | XP_011533928.1:n.120+25172G>T | |
| XM_011535627.1:c.69+679G>T | XP_011533929.1:n.69+679G>T | |
| XM_005266867.4:c.-64+25486G>T | XP_005266924.1:n.-64+25486G>T | |
| XM_011535626.2:c.120+25172G>T | XP_011533928.1:n.120+25172G>T | |
| XM_011535628.3:c.-2540G>T | XP_011533930.1:n.-2540G>T | |
| XM_017010585.1:c.-64+17573G>T | XP_016866074.1:n.-64+17573G>T | |
| XM_017010586.1:c.-40+17573G>T | XP_016866075.1:n.-40+17573G>T | |
| NM_001455.4:c.621+25486G>T MANE Select | NP_001446.1:n.621+25486G>T | |
| NM_201559.3:c.621+25486G>T | NP_963853.1:n.621+25486G>T |