Linked Data
ClinVar Variation Id:
213310
dbSNP Id:
rs748888503
ExAC:
5:127673724 C / T
gnomAD v2:
5-127673724-C-T
gnomAD v3:
5-128338032-C-T
gnomAD v4:
5-128338032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338032C>T , CM000667.2:g.128338032C>T | GRCh38 |
| NC_000005.9:g.127673724C>T , CM000667.1:g.127673724C>T | GRCh37 |
| NC_000005.8:g.127701623C>T | NCBI36 |
| NG_008750.1:g.205012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.347G>A | ||
| ENST00000703785.1:n.428G>A | ||
| ENST00000262464.9:c.3563G>A MANE Select | ENSP00000262464.4:p.Gly1188Glu | |
| ENST00000262464.8:c.3563G>A | ENSP00000262464.4:p.Gly1188Glu | |
| ENST00000507835.5:c.113G>A | ENSP00000426839.1:p.Gly38Glu | |
| ENST00000508053.5:c.3563G>A | ENSP00000424571.1:p.Gly1188Glu | |
| ENST00000508989.5:c.3464G>A | ENSP00000425596.1:p.Gly1155Glu | |
| ENST00000619499.4:c.3560G>A | ENSP00000482132.1:p.Gly1187Glu | |
| NM_001999.3:c.3563G>A | NP_001990.2:p.Gly1188Glu | |
| XM_017009228.2:c.3410G>A | XP_016864717.1:p.Gly1137Glu | |
| NM_001999.4:c.3563G>A MANE Select | NP_001990.2:p.Gly1188Glu |