Linked Data
ClinVar Variation Id:
1327602
ClinVar RCV Id:
RCV001794546
dbSNP Id:
rs970766228
gnomAD v4:
12-120978582-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978582C>A , CM000674.2:g.120978582C>A | GRCh38 |
| NC_000012.11:g.121416385C>A , CM000674.1:g.121416385C>A | GRCh37 |
| NC_000012.10:g.119900768C>A | NCBI36 |
| NG_011731.2:g.4837C>A , LRG_522:g.4837C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257555.11:c.-187C>A MANE Select | ENSP00000257555.5:n.-187C>A | |
| ENST00000257555.10:c.-187C>A | ENSP00000257555.4:n.-187C>A | |
| ENST00000400024.6:c.-187C>A | ENSP00000476181.1:n.-187C>A | |
| NM_000545.6:c.-187C>A | NP_000536.5:n.-187C>A | |
| NM_001306179.1:c.-187C>A | NP_001293108.1:n.-187C>A | |
| XM_005253931.2:c.-187C>A | XP_005253988.1:n.-187C>A | |
| XM_024449168.1:c.-187C>A | XP_024304936.1:n.-187C>A | |
| NM_000545.8:c.-187C>A MANE Select | NP_000536.6:n.-187C>A | |
| NM_001306179.2:c.-187C>A | NP_001293108.2:n.-187C>A |