Linked Data
ClinVar Variation Id:
213388
dbSNP Id:
rs150790914
ExAC:
5:127730865 C / T
gnomAD v2:
5-127730865-C-T
gnomAD v3:
5-128395172-C-T
gnomAD v4:
5-128395172-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395172C>T , CM000667.2:g.128395172C>T | GRCh38 |
| NC_000005.9:g.127730865C>T , CM000667.1:g.127730865C>T | GRCh37 |
| NC_000005.8:g.127758764C>T | NCBI36 |
| NG_008750.1:g.147871G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703787.1:n.888G>A | ||
| ENST00000262464.9:c.1181G>A MANE Select | ENSP00000262464.4:p.Arg394His | |
| ENST00000262464.8:c.1181G>A | ENSP00000262464.4:p.Arg394His | |
| ENST00000508053.5:c.1181G>A | ENSP00000424571.1:p.Arg394His | |
| ENST00000508989.5:c.1082G>A | ENSP00000425596.1:p.Arg361His | |
| ENST00000619499.4:c.1178G>A | ENSP00000482132.1:p.Arg393His | |
| NM_001999.3:c.1181G>A | NP_001990.2:p.Arg394His | |
| XM_017009228.2:c.1079-1804G>A | XP_016864717.1:n.1079-1804G>A | |
| NM_001999.4:c.1181G>A MANE Select | NP_001990.2:p.Arg394His |