Linked Data
ClinVar Variation Id:
411827
ClinVar RCV Id:
RCV000464703
dbSNP Id:
rs778784375
gnomAD v2:
5-127671689-C-T
gnomAD v4:
5-128335997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335997C>T , CM000667.2:g.128335997C>T | GRCh38 |
| NC_000005.9:g.127671689C>T , CM000667.1:g.127671689C>T | GRCh37 |
| NC_000005.8:g.127699588C>T | NCBI36 |
| NG_008750.1:g.207047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.499G>A | ||
| ENST00000703785.1:n.580G>A | ||
| ENST00000262464.9:c.3715G>A MANE Select | ENSP00000262464.4:p.Gly1239Ser | |
| ENST00000262464.8:c.3715G>A | ENSP00000262464.4:p.Gly1239Ser | |
| ENST00000507835.5:c.265G>A | ENSP00000426839.1:p.Gly89Ser | |
| ENST00000508053.5:c.3715G>A | ENSP00000424571.1:p.Gly1239Ser | |
| ENST00000508989.5:c.3616G>A | ENSP00000425596.1:p.Gly1206Ser | |
| ENST00000619499.4:c.3712G>A | ENSP00000482132.1:p.Gly1238Ser | |
| NM_001999.3:c.3715G>A | NP_001990.2:p.Gly1239Ser | |
| XM_017009228.2:c.3562G>A | XP_016864717.1:p.Gly1188Ser | |
| NM_001999.4:c.3715G>A MANE Select | NP_001990.2:p.Gly1239Ser |