Linked Data
ClinVar Variation Id:
2191258
ClinVar RCV Id:
RCV002616818
dbSNP Id:
rs2126838092
gnomAD v4:
5-128304982-A-G
MyVariant Identifiers:
chr5:g.127640674A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304982A>G , CM000667.2:g.128304982A>G | GRCh38 |
| NC_000005.9:g.127640674A>G , CM000667.1:g.127640674A>G | GRCh37 |
| NC_000005.8:g.127668573A>G | NCBI36 |
| NG_008750.1:g.238062T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2559T>C | ||
| ENST00000703785.1:n.2478T>C | ||
| ENST00000262464.9:c.5775T>C MANE Select | ENSP00000262464.4:p.Ala1925= | |
| ENST00000262464.8:c.5775T>C | ENSP00000262464.4:p.Ala1925= | |
| ENST00000508053.5:c.5775T>C | ENSP00000424571.1:p.Ala1925= | |
| ENST00000619499.4:c.5772T>C | ENSP00000482132.1:p.Ala1924= | |
| NM_001999.3:c.5775T>C | NP_001990.2:p.Ala1925= | |
| XM_017009228.2:c.5622T>C | XP_016864717.1:p.Ala1874= | |
| NM_001999.4:c.5775T>C MANE Select | NP_001990.2:p.Ala1925= |