Linked Data
ClinVar Variation Id:
213275
dbSNP Id:
rs528255772
ExAC:
5:127727771 A / T
gnomAD v2:
5-127727771-A-T
gnomAD v3:
5-128392078-A-T
gnomAD v4:
5-128392078-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128392078A>T , CM000667.2:g.128392078A>T | GRCh38 |
| NC_000005.9:g.127727771A>T , CM000667.1:g.127727771A>T | GRCh37 |
| NC_000005.8:g.127755670A>T | NCBI36 |
| NG_008750.1:g.150965T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.1250T>A | ||
| ENST00000262464.9:c.1543T>A MANE Select | ENSP00000262464.4:p.Ser515Thr | |
| ENST00000262464.8:c.1543T>A | ENSP00000262464.4:p.Ser515Thr | |
| ENST00000508053.5:c.1543T>A | ENSP00000424571.1:p.Ser515Thr | |
| ENST00000508989.5:c.1444T>A | ENSP00000425596.1:p.Ser482Thr | |
| ENST00000619499.4:c.1540T>A | ENSP00000482132.1:p.Ser514Thr | |
| NM_001999.3:c.1543T>A | NP_001990.2:p.Ser515Thr | |
| XM_017009228.2:c.1390T>A | XP_016864717.1:p.Ser464Thr | |
| NM_001999.4:c.1543T>A MANE Select | NP_001990.2:p.Ser515Thr |