Linked Data
ClinVar Variation Id:
1702246
ClinVar RCV Id:
RCV002278036
dbSNP Id:
rs2126892175
gnomAD v4:
5-128333012-A-C
MyVariant Identifiers:
chr5:g.127668704A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128333012A>C , CM000667.2:g.128333012A>C | GRCh38 |
| NC_000005.9:g.127668704A>C , CM000667.1:g.127668704A>C | GRCh37 |
| NC_000005.8:g.127696603A>C | NCBI36 |
| NG_008750.1:g.210032T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.906T>G | ||
| ENST00000703785.1:n.987T>G | ||
| ENST00000262464.9:c.4122T>G MANE Select | ENSP00000262464.4:p.Gly1374= | |
| ENST00000262464.8:c.4122T>G | ENSP00000262464.4:p.Gly1374= | |
| ENST00000507835.5:c.672T>G | ENSP00000426839.1:p.Gly224= | |
| ENST00000508053.5:c.4122T>G | ENSP00000424571.1:p.Gly1374= | |
| ENST00000508989.5:c.4023T>G | ENSP00000425596.1:p.Gly1341= | |
| ENST00000619499.4:c.4119T>G | ENSP00000482132.1:p.Gly1373= | |
| NM_001999.3:c.4122T>G | NP_001990.2:p.Gly1374= | |
| XM_017009228.2:c.3969T>G | XP_016864717.1:p.Gly1323= | |
| NM_001999.4:c.4122T>G MANE Select | NP_001990.2:p.Gly1374= |