Linked Data
dbSNP Id:
rs1289424647
gnomAD v2:
3-120393770-G-A
gnomAD v3:
3-120674923-G-A
gnomAD v4:
3-120674923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120674923G>A , CM000665.2:g.120674923G>A | GRCh38 |
| NC_000003.11:g.120393770G>A , CM000665.1:g.120393770G>A | GRCh37 |
| NC_000003.10:g.121876460G>A | NCBI36 |
| NG_011957.1:g.12559C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283871.10:c.154C>T MANE Select | ENSP00000283871.5:p.Pro52Ser | |
| ENST00000283871.9:c.154C>T | ENSP00000283871.5:p.Pro52Ser | |
| ENST00000466528.5:n.180C>T | ||
| ENST00000476082.2:c.53+869C>T | ENSP00000419560.2:n.53+869C>T | |
| ENST00000480862.1:n.312C>T | ||
| ENST00000485313.5:n.262C>T | ||
| ENST00000488183.5:n.412C>T | ||
| NM_000187.3:c.154C>T | NP_000178.2:p.Pro52Ser | |
| XM_005247412.1:c.154C>T | XP_005247469.1:p.Pro52Ser | |
| XM_005247413.1:c.154C>T | XP_005247470.1:p.Pro52Ser | |
| XM_005247414.3:c.154C>T | XP_005247471.1:p.Pro52Ser | |
| XM_011512746.1:c.154C>T | XP_011511048.1:p.Pro52Ser | |
| XM_005247412.2:c.154C>T | XP_005247469.1:p.Pro52Ser | |
| XM_005247413.2:c.154C>T | XP_005247470.1:p.Pro52Ser | |
| XM_005247414.5:c.154C>T | XP_005247471.1:p.Pro52Ser | |
| XM_011512746.2:c.154C>T | XP_011511048.1:p.Pro52Ser | |
| XM_017006277.2:c.-270C>T | XP_016861766.1:n.-270C>T | |
| NM_000187.4:c.154C>T MANE Select | NP_000178.2:p.Pro52Ser |