Linked Data
ClinVar Variation Id:
213433
dbSNP Id:
rs148971572
ExAC:
5:127800434 C / T
gnomAD v2:
5-127800434-C-T
gnomAD v3:
5-128464741-C-T
gnomAD v4:
5-128464741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128464741C>T , CM000667.2:g.128464741C>T | GRCh38 |
| NC_000005.9:g.127800434C>T , CM000667.1:g.127800434C>T | GRCh37 |
| NC_000005.8:g.127828333C>T | NCBI36 |
| NG_008750.1:g.78302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.809G>A | ENSP00000424571.2:p.Arg270His | |
| ENST00000703787.1:n.516G>A | ||
| ENST00000262464.9:c.809G>A MANE Select | ENSP00000262464.4:p.Arg270His | |
| ENST00000262464.8:c.809G>A | ENSP00000262464.4:p.Arg270His | |
| ENST00000502468.5:c.809G>A | ENSP00000424753.1:p.Arg270His | |
| ENST00000508053.5:c.809G>A | ENSP00000424571.1:p.Arg270His | |
| ENST00000508989.5:c.710G>A | ENSP00000425596.1:p.Arg237His | |
| ENST00000514742.1:n.1429G>A | ||
| ENST00000619499.4:c.806G>A | ENSP00000482132.1:p.Arg269His | |
| ENST00000620257.1:c.807G>A | ENSP00000479157.1:p.Pro269= | |
| NM_001999.3:c.809G>A | NP_001990.2:p.Arg270His | |
| XM_017009228.2:c.809G>A | XP_016864717.1:p.Arg270His | |
| NM_001999.4:c.809G>A MANE Select | NP_001990.2:p.Arg270His |