Linked Data
ClinVar Variation Id:
2990953
ClinVar RCV Id:
RCV003847632
dbSNP Id:
rs1223831796
gnomAD v2:
2-73114576-G-A
gnomAD v3:
2-72887447-G-A
gnomAD v4:
2-72887447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887447G>A , CM000664.2:g.72887447G>A | GRCh38 |
| NC_000002.11:g.73114576G>A , CM000664.1:g.73114576G>A | GRCh37 |
| NC_000002.10:g.72968084G>A | NCBI36 |
| NG_008234.1:g.5065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.15G>A MANE Select | ENSP00000234454.5:p.Leu5= | |
| ENST00000234454.5:c.15G>A | ENSP00000234454.5:p.Leu5= | |
| ENST00000498749.1:n.66G>A | ||
| NM_003124.4:c.15G>A | NP_003115.1:p.Leu5= | |
| NM_003124.5:c.15G>A MANE Select | NP_003115.1:p.Leu5= |