Linked Data
ClinVar Variation Id:
1366643
ClinVar RCV Id:
RCV001944779
dbSNP Id:
rs142228933
ExAC:
5:127730851 C / T
gnomAD v2:
5-127730851-C-T
gnomAD v3:
5-128395158-C-T
gnomAD v4:
5-128395158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395158C>T , CM000667.2:g.128395158C>T | GRCh38 |
| NC_000005.9:g.127730851C>T , CM000667.1:g.127730851C>T | GRCh37 |
| NC_000005.8:g.127758750C>T | NCBI36 |
| NG_008750.1:g.147885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.902G>A | ||
| ENST00000262464.9:c.1195G>A MANE Select | ENSP00000262464.4:p.Gly399Arg | |
| ENST00000262464.8:c.1195G>A | ENSP00000262464.4:p.Gly399Arg | |
| ENST00000508053.5:c.1195G>A | ENSP00000424571.1:p.Gly399Arg | |
| ENST00000508989.5:c.1096G>A | ENSP00000425596.1:p.Gly366Arg | |
| ENST00000619499.4:c.1192G>A | ENSP00000482132.1:p.Gly398Arg | |
| NM_001999.3:c.1195G>A | NP_001990.2:p.Gly399Arg | |
| XM_017009228.2:c.1079-1790G>A | XP_016864717.1:n.1079-1790G>A | |
| NM_001999.4:c.1195G>A MANE Select | NP_001990.2:p.Gly399Arg |