Linked Data
dbSNP Id:
rs545681641
ExAC:
1:169541507 G / T
gnomAD v2:
1-169541507-G-T
gnomAD v3:
1-169572269-G-T
gnomAD v4:
1-169572269-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572269G>T , CM000663.2:g.169572269G>T | GRCh38 |
| NC_000001.10:g.169541507G>T , CM000663.1:g.169541507G>T | GRCh37 |
| NC_000001.9:g.167808131G>T | NCBI36 |
| NG_011806.1:g.19263C>A , LRG_553:g.19263C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.325C>A MANE Select | ENSP00000356771.3:p.Pro109Thr | |
| ENST00000367796.3:c.325C>A | ENSP00000356770.3:p.Pro109Thr | |
| ENST00000367797.7:c.325C>A | ENSP00000356771.3:p.Pro109Thr | |
| NM_000130.4:c.325C>A , LRG_553t1:c.325C>A | NP_000121.2:p.Pro109Thr | |
| XM_017000660.2:c.-87C>A | XP_016856149.1:n.-87C>A | |
| NM_000130.5:c.325C>A MANE Select | NP_000121.2:p.Pro109Thr |