Linked Data
dbSNP Id:
rs771208378
ExAC:
10:73768050 T / A
gnomAD v2:
10-73768050-T-A
gnomAD v3:
10-72008292-T-A
gnomAD v4:
10-72008292-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008292T>A , CM000672.2:g.72008292T>A | GRCh38 |
| NC_000010.10:g.73768050T>A , CM000672.1:g.73768050T>A | GRCh37 |
| NC_000010.9:g.73438056T>A | NCBI36 |
| NG_012635.1:g.48931T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1261T>A MANE Select | ENSP00000362207.4:p.Ser421Thr | |
| ENST00000373115.4:c.1261T>A | ENSP00000362207.4:p.Ser421Thr | |
| NM_004273.4:c.1261T>A | NP_004264.2:p.Ser421Thr | |
| XM_006718075.2:c.1261T>A | XP_006718138.1:p.Ser421Thr | |
| XM_011540369.1:c.1261T>A | XP_011538671.1:p.Ser421Thr | |
| XM_006718075.4:c.1261T>A | XP_006718138.1:p.Ser421Thr | |
| XM_011540369.2:c.1261T>A | XP_011538671.1:p.Ser421Thr | |
| NM_004273.5:c.1261T>A MANE Select | NP_004264.2:p.Ser421Thr |