Linked Data
ClinVar Variation Id:
3027793
ClinVar RCV Id:
RCV003891047
dbSNP Id:
rs1660213080
gnomAD v3:
1-94031827-A-G
gnomAD v4:
1-94031827-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031827A>G , CM000663.2:g.94031827A>G | GRCh38 |
| NC_000001.10:g.94497383A>G , CM000663.1:g.94497383A>G | GRCh37 |
| NC_000001.9:g.94269971A>G | NCBI36 |
| NG_009073.1:g.94323T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4079T>C MANE Select | ENSP00000359245.3:p.Val1360Ala | |
| ENST00000370225.3:c.4079T>C | ENSP00000359245.3:p.Val1360Ala | |
| ENST00000536513.5:c.455T>C | ENSP00000439707.2:p.Val152Ala | |
| NM_000350.2:c.4079T>C | NP_000341.2:p.Val1360Ala | |
| NM_000350.3:c.4079T>C MANE Select | NP_000341.2:p.Val1360Ala |