Linked Data
ClinVar Variation Id:
2045260
ClinVar RCV Id:
RCV002918050
dbSNP Id:
rs1406662634
gnomAD v2:
2-73114878-G-A
gnomAD v4:
2-72887749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887749G>A , CM000664.2:g.72887749G>A | GRCh38 |
| NC_000002.11:g.73114878G>A , CM000664.1:g.73114878G>A | GRCh37 |
| NC_000002.10:g.72968386G>A | NCBI36 |
| NG_008234.1:g.5367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.304+13G>A MANE Select | ENSP00000234454.5:n.304+13G>A | |
| ENST00000234454.5:c.304+13G>A | ENSP00000234454.5:n.304+13G>A | |
| ENST00000498749.1:n.355+13G>A | ||
| NM_003124.4:c.304+13G>A | NP_003115.1:n.304+13G>A | |
| NM_003124.5:c.304+13G>A MANE Select | NP_003115.1:n.304+13G>A |