Linked Data
ClinVar Variation Id:
1587838
ClinVar RCV Id:
RCV002103581
dbSNP Id:
rs1159270463
gnomAD v2:
16-74808376-G-A
gnomAD v3:
16-74774478-G-A
gnomAD v4:
16-74774478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774478G>A , CM000678.2:g.74774478G>A | GRCh38 |
| NC_000016.9:g.74808376G>A , CM000678.1:g.74808376G>A | GRCh37 |
| NC_000016.8:g.73365877G>A | NCBI36 |
| NG_017070.1:g.5354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.270+8C>T MANE Select | ENSP00000219368.3:n.270+8C>T | |
| ENST00000219368.7:c.270+8C>T | ENSP00000219368.3:n.270+8C>T | |
| ENST00000567683.5:c.270+8C>T | ENSP00000455126.1:n.270+8C>T | |
| NM_024306.4:c.270+8C>T | NP_077282.3:n.270+8C>T | |
| XM_011523317.1:c.270+8C>T | XP_011521619.1:n.270+8C>T | |
| XM_011523318.1:c.270+8C>T | XP_011521620.1:n.270+8C>T | |
| XM_011523317.3:c.270+8C>T | XP_011521619.1:n.270+8C>T | |
| NM_024306.5:c.270+8C>T MANE Select | NP_077282.3:n.270+8C>T |