Linked Data
ClinVar Variation Id:
346487
dbSNP Id:
rs139238137
gnomAD v2:
3-64210915-C-T
gnomAD v3:
3-64225239-C-T
gnomAD v4:
3-64225239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64225239C>T , CM000665.2:g.64225239C>T | GRCh38 |
| NC_000003.11:g.64210915C>T , CM000665.1:g.64210915C>T | GRCh37 |
| NC_000003.10:g.64185955C>T | NCBI36 |
| NG_031930.1:g.5217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.129-26272G>A | ENSP00000295902.7:n.129-26272G>A | |
| ENST00000485770.2:n.341-26272G>A | ||
| ENST00000498162.2:c.110-26272G>A | ||
| ENST00000564377.6:c.-40-26272G>A | ENSP00000455004.2:n.-40-26272G>A | |
| ENST00000638394.2:c.-370G>A MANE Select | ENSP00000492363.1:n.-370G>A | |
| ENST00000295902.10:c.-370G>A | ENSP00000295902.6:n.-370G>A | |
| ENST00000498162.1:c.-40-26272G>A | ENSP00000419951.1:n.-40-26272G>A | |
| ENST00000564377.5:c.129-26272G>A | ENSP00000455004.1:n.129-26272G>A | |
| ENST00000569824.1:c.237-26272G>A | ENSP00000456173.1:n.237-26272G>A | |
| NM_198859.3:c.-370G>A | NP_942559.1:n.-370G>A | |
| XM_011533432.1:c.237-26272G>A | XP_011531734.1:n.237-26272G>A | |
| XM_011533433.1:c.237-26272G>A | XP_011531735.1:n.237-26272G>A | |
| XM_011533434.1:c.129-26272G>A | XP_011531736.1:n.129-26272G>A | |
| XM_011533435.1:c.129-26272G>A | XP_011531737.1:n.129-26272G>A | |
| XM_011533436.1:c.-40-26272G>A | XP_011531738.1:n.-40-26272G>A | |
| XM_011533437.1:c.-370G>A | XP_011531739.1:n.-370G>A | |
| XM_011533440.1:c.237-26272G>A | XP_011531742.1:n.237-26272G>A | |
| XM_011533432.2:c.237-26272G>A | XP_011531734.1:n.237-26272G>A | |
| XM_011533433.2:c.237-26272G>A | XP_011531735.1:n.237-26272G>A | |
| XM_011533434.2:c.129-26272G>A | XP_011531736.1:n.129-26272G>A | |
| XM_011533435.2:c.129-26272G>A | XP_011531737.1:n.129-26272G>A | |
| XM_011533436.3:c.-40-26272G>A | XP_011531738.1:n.-40-26272G>A | |
| XM_011533437.2:c.-370G>A | XP_011531739.1:n.-370G>A | |
| XM_011533440.2:c.237-26272G>A | XP_011531742.1:n.237-26272G>A | |
| XM_017005798.1:c.-40-26272G>A | XP_016861287.1:n.-40-26272G>A | |
| NM_198859.4:c.-370G>A MANE Select | NP_942559.1:n.-370G>A | |
| NM_001370528.1:c.-40-26272G>A | NP_001357457.1:n.-40-26272G>A |