Linked Data
dbSNP Id:
rs371960566
ExAC:
1:169541428 C / T
gnomAD v2:
1-169541428-C-T
gnomAD v3:
1-169572190-C-T
gnomAD v4:
1-169572190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572190C>T , CM000663.2:g.169572190C>T | GRCh38 |
| NC_000001.10:g.169541428C>T , CM000663.1:g.169541428C>T | GRCh37 |
| NC_000001.9:g.167808052C>T | NCBI36 |
| NG_011806.1:g.19342G>A , LRG_553:g.19342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.373+31G>A MANE Select | ENSP00000356771.3:n.373+31G>A | |
| ENST00000367796.3:c.373+31G>A | ENSP00000356770.3:n.373+31G>A | |
| ENST00000367797.7:c.373+31G>A | ENSP00000356771.3:n.373+31G>A | |
| NM_000130.4:c.373+31G>A , LRG_553t1:c.373+31G>A | NP_000121.2:n.373+31G>A | |
| XM_017000660.2:c.-39+31G>A | XP_016856149.1:n.-39+31G>A | |
| NM_000130.5:c.373+31G>A MANE Select | NP_000121.2:n.373+31G>A |