Linked Data
dbSNP Id:
rs777320377
ExAC:
12:7945629 T / A
gnomAD v2:
12-7945629-T-A
gnomAD v4:
12-7793033-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793033T>A , CM000674.2:g.7793033T>A | GRCh38 |
| NC_000012.11:g.7945629T>A , CM000674.1:g.7945629T>A | GRCh37 |
| NC_000012.10:g.7836896T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.235T>A MANE Select | ENSP00000229307.4:p.Ser79Thr | |
| ENST00000229307.8:c.235T>A | ENSP00000229307.4:p.Ser79Thr | |
| ENST00000526286.1:c.235T>A | ENSP00000435288.1:p.Ser79Thr | |
| ENST00000526434.2:n.379T>A | ||
| ENST00000541267.5:c.163T>A | ENSP00000444434.1:p.Ser55Thr | |
| NM_001297698.1:c.235T>A | NP_001284627.1:p.Ser79Thr | |
| NM_024865.3:c.235T>A | NP_079141.2:p.Ser79Thr | |
| XM_011520850.1:c.235T>A | XP_011519152.1:p.Ser79Thr | |
| XM_011520851.1:c.163T>A | XP_011519153.1:p.Ser55Thr | |
| XM_011520852.1:c.-138T>A | XP_011519154.1:n.-138T>A | |
| NM_024865.4:c.235T>A MANE Select | NP_079141.2:p.Ser79Thr | |
| NM_001297698.2:c.235T>A | NP_001284627.1:p.Ser79Thr |