Linked Data
ClinVar Variation Id:
2124229
ClinVar RCV Id:
RCV003057057
dbSNP Id:
rs1198328195
gnomAD v3:
5-128330629-C-T
gnomAD v4:
5-128330629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330629C>T , CM000667.2:g.128330629C>T | GRCh38 |
| NC_000005.9:g.127666321C>T , CM000667.1:g.127666321C>T | GRCh37 |
| NC_000005.8:g.127694220C>T | NCBI36 |
| NG_008750.1:g.212415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1073G>A | ||
| ENST00000703785.1:n.1154G>A | ||
| ENST00000262464.9:c.4289G>A MANE Select | ENSP00000262464.4:p.Gly1430Asp | |
| ENST00000262464.8:c.4289G>A | ENSP00000262464.4:p.Gly1430Asp | |
| ENST00000507835.5:c.839G>A | ENSP00000426839.1:p.Gly280Asp | |
| ENST00000508053.5:c.4289G>A | ENSP00000424571.1:p.Gly1430Asp | |
| ENST00000508989.5:c.4190G>A | ENSP00000425596.1:p.Gly1397Asp | |
| ENST00000619499.4:c.4286G>A | ENSP00000482132.1:p.Gly1429Asp | |
| NM_001999.3:c.4289G>A | NP_001990.2:p.Gly1430Asp | |
| XM_017009228.2:c.4136G>A | XP_016864717.1:p.Gly1379Asp | |
| NM_001999.4:c.4289G>A MANE Select | NP_001990.2:p.Gly1430Asp |