Linked Data
ClinVar Variation Id:
359500
ClinVar RCV Id:
RCV000309566
dbSNP Id:
rs886062148
gnomAD v3:
7-16088508-C-A
gnomAD v4:
7-16088508-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16088508C>A , CM000669.2:g.16088508C>A | GRCh38 |
| NC_000007.13:g.16128133C>A , CM000669.1:g.16128133C>A | GRCh37 |
| NC_000007.12:g.16094658C>A | NCBI36 |
| NG_032690.1:g.337815G>T | |
| NG_032690.2:g.337815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*3187G>T MANE Select | ENSP00000385478.2:n.*3187G>T | |
| ENST00000407010.6:c.4543G>T | ENSP00000385478.2:n.4543G>T | |
| NM_001101417.3:c.4393G>T | NP_001094887.1:n.4393G>T | |
| NM_001101426.3:c.4543G>T | NP_001094896.1:n.4543G>T | |
| XM_011515498.1:c.1251+127558G>T | XP_011513800.1:n.1251+127558G>T | |
| NM_001101426.4:c.*3187G>T MANE Select | NP_001094896.1:n.*3187G>T | |
| NM_001101417.4:c.*3187G>T | NP_001094887.1:n.*3187G>T | |
| NM_001368197.1:c.*3187G>T | NP_001355126.1:n.*3187G>T | |
| NR_160656.1:n.4608G>T |