Linked Data
ClinVar Variation Id:
1310376
ClinVar RCV Id:
RCV001767490
dbSNP Id:
rs2126892048
gnomAD v4:
5-128332941-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332941C>A , CM000667.2:g.128332941C>A | GRCh38 |
| NC_000005.9:g.127668633C>A , CM000667.1:g.127668633C>A | GRCh37 |
| NC_000005.8:g.127696532C>A | NCBI36 |
| NG_008750.1:g.210103G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.977G>T | ||
| ENST00000703785.1:n.1058G>T | ||
| ENST00000262464.9:c.4193G>T MANE Select | ENSP00000262464.4:p.Gly1398Val | |
| ENST00000262464.8:c.4193G>T | ENSP00000262464.4:p.Gly1398Val | |
| ENST00000507835.5:c.743G>T | ENSP00000426839.1:p.Gly248Val | |
| ENST00000508053.5:c.4193G>T | ENSP00000424571.1:p.Gly1398Val | |
| ENST00000508989.5:c.4094G>T | ENSP00000425596.1:p.Gly1365Val | |
| ENST00000619499.4:c.4190G>T | ENSP00000482132.1:p.Gly1397Val | |
| NM_001999.3:c.4193G>T | NP_001990.2:p.Gly1398Val | |
| XM_017009228.2:c.4040G>T | XP_016864717.1:p.Gly1347Val | |
| NM_001999.4:c.4193G>T MANE Select | NP_001990.2:p.Gly1398Val |