Linked Data
ClinVar Variation Id:
2056416
ClinVar RCV Id:
RCV002947495
dbSNP Id:
rs1193474946
gnomAD v2:
5-127671211-C-G
gnomAD v3:
5-128335519-C-G
gnomAD v4:
5-128335519-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335519C>G , CM000667.2:g.128335519C>G | GRCh38 |
| NC_000005.9:g.127671211C>G , CM000667.1:g.127671211C>G | GRCh37 |
| NC_000005.8:g.127699110C>G | NCBI36 |
| NG_008750.1:g.207525G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.567G>C | ||
| ENST00000703785.1:n.648G>C | ||
| ENST00000262464.9:c.3783G>C MANE Select | ENSP00000262464.4:p.Glu1261Asp | |
| ENST00000262464.8:c.3783G>C | ENSP00000262464.4:p.Glu1261Asp | |
| ENST00000507835.5:c.333G>C | ENSP00000426839.1:p.Glu111Asp | |
| ENST00000508053.5:c.3783G>C | ENSP00000424571.1:p.Glu1261Asp | |
| ENST00000508989.5:c.3684G>C | ENSP00000425596.1:p.Glu1228Asp | |
| ENST00000619499.4:c.3780G>C | ENSP00000482132.1:p.Glu1260Asp | |
| NM_001999.3:c.3783G>C | NP_001990.2:p.Glu1261Asp | |
| XM_017009228.2:c.3630G>C | XP_016864717.1:p.Glu1210Asp | |
| NM_001999.4:c.3783G>C MANE Select | NP_001990.2:p.Glu1261Asp |