Linked Data
dbSNP Id:
rs778079321
ExAC:
3:120389418 T / C
gnomAD v2:
3-120389418-T-C
gnomAD v4:
3-120670571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670571T>C , CM000665.2:g.120670571T>C | GRCh38 |
| NC_000003.11:g.120389418T>C , CM000665.1:g.120389418T>C | GRCh37 |
| NC_000003.10:g.121872108T>C | NCBI36 |
| NG_011957.1:g.16911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.177-39A>G MANE Select | ENSP00000283871.5:n.177-39A>G | |
| ENST00000283871.9:c.177-39A>G | ENSP00000283871.5:n.177-39A>G | |
| ENST00000466528.5:n.203-39A>G | ||
| ENST00000476082.2:c.54-39A>G | ENSP00000419560.2:n.54-39A>G | |
| ENST00000485313.5:n.285-39A>G | ||
| ENST00000488183.5:n.435-39A>G | ||
| NM_000187.3:c.177-39A>G | NP_000178.2:n.177-39A>G | |
| XM_005247412.1:c.177-39A>G | XP_005247469.1:n.177-39A>G | |
| XM_005247413.1:c.177-39A>G | XP_005247470.1:n.177-39A>G | |
| XM_005247414.3:c.177-39A>G | XP_005247471.1:n.177-39A>G | |
| XM_011512746.1:c.177-39A>G | XP_011511048.1:n.177-39A>G | |
| XM_005247412.2:c.177-39A>G | XP_005247469.1:n.177-39A>G | |
| XM_005247413.2:c.177-39A>G | XP_005247470.1:n.177-39A>G | |
| XM_005247414.5:c.177-39A>G | XP_005247471.1:n.177-39A>G | |
| XM_011512746.2:c.177-39A>G | XP_011511048.1:n.177-39A>G | |
| XM_017006277.2:c.-247-39A>G | XP_016861766.1:n.-247-39A>G | |
| NM_000187.4:c.177-39A>G MANE Select | NP_000178.2:n.177-39A>G |