Linked Data
dbSNP Id:
rs999946208
gnomAD v2:
3-120389228-A-C
gnomAD v3:
3-120670381-A-C
gnomAD v4:
3-120670381-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670381A>C , CM000665.2:g.120670381A>C | GRCh38 |
| NC_000003.11:g.120389228A>C , CM000665.1:g.120389228A>C | GRCh37 |
| NC_000003.10:g.121871918A>C | NCBI36 |
| NG_011957.1:g.17101T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.282+46T>G MANE Select | ENSP00000283871.5:n.282+46T>G | |
| ENST00000283871.9:c.282+46T>G | ENSP00000283871.5:n.282+46T>G | |
| ENST00000466528.5:n.354T>G | ||
| ENST00000476082.2:c.159+46T>G | ENSP00000419560.2:n.159+46T>G | |
| ENST00000485313.5:n.390+46T>G | ||
| ENST00000488183.5:n.540+46T>G | ||
| NM_000187.3:c.282+46T>G | NP_000178.2:n.282+46T>G | |
| XM_005247412.1:c.282+46T>G | XP_005247469.1:n.282+46T>G | |
| XM_005247413.1:c.282+46T>G | XP_005247470.1:n.282+46T>G | |
| XM_005247414.3:c.282+46T>G | XP_005247471.1:n.282+46T>G | |
| XM_011512746.1:c.282+46T>G | XP_011511048.1:n.282+46T>G | |
| XM_005247412.2:c.282+46T>G | XP_005247469.1:n.282+46T>G | |
| XM_005247413.2:c.282+46T>G | XP_005247470.1:n.282+46T>G | |
| XM_005247414.5:c.282+46T>G | XP_005247471.1:n.282+46T>G | |
| XM_011512746.2:c.282+46T>G | XP_011511048.1:n.282+46T>G | |
| XM_017006277.2:c.-142+46T>G | XP_016861766.1:n.-142+46T>G | |
| NM_000187.4:c.282+46T>G MANE Select | NP_000178.2:n.282+46T>G |