Linked Data
ClinVar Variation Id:
1749114
ClinVar RCV Id:
RCV002347514
dbSNP Id:
rs1749829896
gnomAD v3:
5-128305060-A-G
gnomAD v4:
5-128305060-A-G
MyVariant Identifiers:
chr5:g.127640752A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305060A>G , CM000667.2:g.128305060A>G | GRCh38 |
| NC_000005.9:g.127640752A>G , CM000667.1:g.127640752A>G | GRCh37 |
| NC_000005.8:g.127668651A>G | NCBI36 |
| NG_008750.1:g.237984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2481T>C | ||
| ENST00000703785.1:n.2400T>C | ||
| ENST00000262464.9:c.5697T>C MANE Select | ENSP00000262464.4:p.Ile1899= | |
| ENST00000262464.8:c.5697T>C | ENSP00000262464.4:p.Ile1899= | |
| ENST00000508053.5:c.5697T>C | ENSP00000424571.1:p.Ile1899= | |
| ENST00000619499.4:c.5694T>C | ENSP00000482132.1:p.Ile1898= | |
| NM_001999.3:c.5697T>C | NP_001990.2:p.Ile1899= | |
| XM_017009228.2:c.5544T>C | XP_016864717.1:p.Ile1848= | |
| NM_001999.4:c.5697T>C MANE Select | NP_001990.2:p.Ile1899= |