Linked Data
dbSNP Id:
rs3212285
ExAC:
Y:21897363 T / A
gnomAD v2:
Y-21897363-T-A
gnomAD v3:
Y-19735477-T-A
gnomAD v4:
Y-19735477-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19735477T>A , CM000686.2:g.19735477T>A | GRCh38 |
| NC_000024.9:g.21897363T>A , CM000686.1:g.21897363T>A | GRCh37 |
| NC_000024.8:g.20356751T>A | NCBI36 |
| NG_032920.1:g.14463A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317961.9:c.808A>T MANE Select | ENSP00000322408.4:p.Thr270Ser | |
| ENST00000317961.8:c.808A>T | ENSP00000322408.4:p.Thr270Ser | |
| ENST00000382806.6:c.637A>T | ENSP00000372256.2:p.Thr213Ser | |
| ENST00000440077.5:c.685A>T | ENSP00000398543.1:p.Thr229Ser | |
| ENST00000447300.1:c.673A>T | ENSP00000416377.1:p.Thr225Ser | |
| ENST00000541639.5:c.808A>T | ENSP00000444293.1:p.Thr270Ser | |
| NM_001146705.1:c.808A>T | NP_001140177.1:p.Thr270Ser | |
| NM_001146706.1:c.637A>T | NP_001140178.1:p.Thr213Ser | |
| NM_004653.4:c.808A>T | NP_004644.2:p.Thr270Ser | |
| XM_005262560.1:c.673A>T | XP_005262617.1:p.Thr225Ser | |
| XM_005262561.1:c.808A>T | XP_005262618.1:p.Thr270Ser | |
| XM_005262562.2:c.808A>T | XP_005262619.1:p.Thr270Ser | |
| XM_011531468.1:c.808A>T | XP_011529770.1:p.Thr270Ser | |
| XR_244571.2:n.1096A>T | ||
| XR_430568.2:n.1096A>T | ||
| XR_938609.1:n.1096A>T | ||
| XR_938610.1:n.1096A>T | ||
| XM_005262560.3:c.673A>T | XP_005262617.1:p.Thr225Ser | |
| XM_005262561.3:c.808A>T | XP_005262618.1:p.Thr270Ser | |
| XM_011531468.3:c.808A>T | XP_011529770.1:p.Thr270Ser | |
| XM_024452495.1:c.-1310A>T | XP_024308263.1:n.-1310A>T | |
| XR_001756009.2:n.1095A>T | ||
| XR_001756010.2:n.1095A>T | ||
| XR_001756011.2:n.960A>T | ||
| XR_001756012.2:n.1095A>T | ||
| XR_001756013.2:n.1095A>T | ||
| XR_002958832.1:n.1095A>T | ||
| XR_002958833.1:n.1095A>T | ||
| XR_002958834.1:n.1095A>T | ||
| XR_002958835.1:n.1095A>T | ||
| XR_002958836.1:n.1095A>T | ||
| XR_002958837.1:n.1095A>T | ||
| XR_244571.4:n.1095A>T | ||
| XR_430568.4:n.1095A>T | ||
| NM_001146706.2:c.637A>T | NP_001140178.1:p.Thr213Ser | |
| NM_004653.5:c.808A>T MANE Select | NP_004644.2:p.Thr270Ser | |
| NM_001146705.2:c.808A>T | NP_001140177.1:p.Thr270Ser |