Linked Data
ClinVar Variation Id:
2087974
ClinVar RCV Id:
RCV003009837
dbSNP Id:
rs899324106
gnomAD v4:
1-216418685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216418685G>A , CM000663.2:g.216418685G>A | GRCh38 |
| NC_000001.10:g.216592027G>A , CM000663.1:g.216592027G>A | GRCh37 |
| NC_000001.9:g.214658650G>A | NCBI36 |
| NG_009497.1:g.9712C>T | |
| NG_009497.2:g.9764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.486-6C>T MANE Select | ENSP00000305941.3:n.486-6C>T | |
| ENST00000674083.1:c.486-6C>T | ENSP00000501296.1:n.486-6C>T | |
| ENST00000307340.7:c.486-6C>T | ENSP00000305941.3:n.486-6C>T | |
| ENST00000366942.3:c.486-6C>T | ENSP00000355909.3:n.486-6C>T | |
| NM_007123.5:c.486-6C>T | NP_009054.5:n.486-6C>T | |
| NM_206933.2:c.486-6C>T | NP_996816.2:n.486-6C>T | |
| NM_206933.3:c.486-6C>T | NP_996816.2:n.486-6C>T | |
| NM_007123.6:c.486-6C>T | NP_009054.6:n.486-6C>T | |
| NM_206933.4:c.486-6C>T MANE Select | NP_996816.3:n.486-6C>T |