Linked Data
dbSNP Id:
rs1708120750
gnomAD v4:
3-120675878-G-A
MyVariant Identifiers:
chr3:g.120394725G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120675878G>A , CM000665.2:g.120675878G>A | GRCh38 |
| NC_000003.11:g.120394725G>A , CM000665.1:g.120394725G>A | GRCh37 |
| NC_000003.10:g.121877415G>A | NCBI36 |
| NG_011957.1:g.11604C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.16-15C>T MANE Select | ENSP00000283871.5:n.16-15C>T | |
| ENST00000283871.9:c.16-15C>T | ENSP00000283871.5:n.16-15C>T | |
| ENST00000466528.5:n.42-15C>T | ||
| ENST00000476082.2:c.-19-15C>T | ENSP00000419560.2:n.-19-15C>T | |
| ENST00000480862.1:n.174-15C>T | ||
| ENST00000485313.5:n.124-15C>T | ||
| ENST00000488183.5:n.274-15C>T | ||
| NM_000187.3:c.16-15C>T | NP_000178.2:n.16-15C>T | |
| XM_005247412.1:c.16-15C>T | XP_005247469.1:n.16-15C>T | |
| XM_005247413.1:c.16-15C>T | XP_005247470.1:n.16-15C>T | |
| XM_005247414.3:c.16-15C>T | XP_005247471.1:n.16-15C>T | |
| XM_011512746.1:c.16-15C>T | XP_011511048.1:n.16-15C>T | |
| XM_005247412.2:c.16-15C>T | XP_005247469.1:n.16-15C>T | |
| XM_005247413.2:c.16-15C>T | XP_005247470.1:n.16-15C>T | |
| XM_005247414.5:c.16-15C>T | XP_005247471.1:n.16-15C>T | |
| XM_011512746.2:c.16-15C>T | XP_011511048.1:n.16-15C>T | |
| XM_017006277.2:c.-408-15C>T | XP_016861766.1:n.-408-15C>T | |
| NM_000187.4:c.16-15C>T MANE Select | NP_000178.2:n.16-15C>T |