Linked Data
ClinVar Variation Id:
1214889
ClinVar RCV Id:
RCV001593364
dbSNP Id:
rs143547926
gnomAD v2:
1-215990668-C-A
gnomAD v3:
1-215817326-C-A
gnomAD v4:
1-215817326-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817326C>A , CM000663.2:g.215817326C>A | GRCh38 |
| NC_000001.10:g.215990668C>A , CM000663.1:g.215990668C>A | GRCh37 |
| NC_000001.9:g.214057291C>A | NCBI36 |
| NG_009497.1:g.611071G>T | |
| NG_009497.2:g.611123G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-131G>T MANE Select | ENSP00000305941.3:n.9372-131G>T | |
| ENST00000674083.1:c.9372-131G>T | ENSP00000501296.1:n.9372-131G>T | |
| ENST00000307340.7:c.9372-131G>T | ENSP00000305941.3:n.9372-131G>T | |
| NM_206933.2:c.9372-131G>T | NP_996816.2:n.9372-131G>T | |
| NM_206933.3:c.9372-131G>T | NP_996816.2:n.9372-131G>T | |
| NM_206933.4:c.9372-131G>T MANE Select | NP_996816.3:n.9372-131G>T |