Linked Data
dbSNP Id:
rs1283333305
gnomAD v2:
3-120364874-T-A
gnomAD v3:
3-120646027-T-A
gnomAD v4:
3-120646027-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120646027T>A , CM000665.2:g.120646027T>A | GRCh38 |
| NC_000003.11:g.120364874T>A , CM000665.1:g.120364874T>A | GRCh37 |
| NC_000003.10:g.121847564T>A | NCBI36 |
| NG_011957.1:g.41455A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.649+240A>T MANE Select | ENSP00000283871.5:n.649+240A>T | |
| ENST00000283871.9:c.649+240A>T | ENSP00000283871.5:n.649+240A>T | |
| ENST00000475447.2:c.180+240A>T | ||
| ENST00000492108.5:c.180+946A>T | ENSP00000419838.1:n.180+946A>T | |
| ENST00000494453.1:c.69+240A>T | ||
| NM_000187.3:c.649+240A>T | NP_000178.2:n.649+240A>T | |
| XM_005247412.1:c.549+946A>T | XP_005247469.1:n.549+946A>T | |
| XM_005247413.1:c.649+240A>T | XP_005247470.1:n.649+240A>T | |
| XM_005247414.3:c.649+240A>T | XP_005247471.1:n.649+240A>T | |
| XM_011512746.1:c.649+240A>T | XP_011511048.1:n.649+240A>T | |
| XM_005247412.2:c.549+946A>T | XP_005247469.1:n.549+946A>T | |
| XM_005247413.2:c.649+240A>T | XP_005247470.1:n.649+240A>T | |
| XM_005247414.5:c.649+240A>T | XP_005247471.1:n.649+240A>T | |
| XM_011512746.2:c.649+240A>T | XP_011511048.1:n.649+240A>T | |
| XM_017006277.2:c.226+240A>T | XP_016861766.1:n.226+240A>T | |
| NM_000187.4:c.649+240A>T MANE Select | NP_000178.2:n.649+240A>T |