Linked Data
ClinVar Variation Id:
1349195
ClinVar RCV Id:
RCV002035150
dbSNP Id:
rs866719857
gnomAD v2:
5-127666379-C-T
gnomAD v4:
5-128330687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330687C>T , CM000667.2:g.128330687C>T | GRCh38 |
| NC_000005.9:g.127666379C>T , CM000667.1:g.127666379C>T | GRCh37 |
| NC_000005.8:g.127694278C>T | NCBI36 |
| NG_008750.1:g.212357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1015G>A | ||
| ENST00000703785.1:n.1096G>A | ||
| ENST00000262464.9:c.4231G>A MANE Select | ENSP00000262464.4:p.Glu1411Lys | |
| ENST00000262464.8:c.4231G>A | ENSP00000262464.4:p.Glu1411Lys | |
| ENST00000507835.5:c.781G>A | ENSP00000426839.1:p.Glu261Lys | |
| ENST00000508053.5:c.4231G>A | ENSP00000424571.1:p.Glu1411Lys | |
| ENST00000508989.5:c.4132G>A | ENSP00000425596.1:p.Glu1378Lys | |
| ENST00000619499.4:c.4228G>A | ENSP00000482132.1:p.Glu1410Lys | |
| NM_001999.3:c.4231G>A | NP_001990.2:p.Glu1411Lys | |
| XM_017009228.2:c.4078G>A | XP_016864717.1:p.Glu1360Lys | |
| NM_001999.4:c.4231G>A MANE Select | NP_001990.2:p.Glu1411Lys |