Linked Data
ClinVar Variation Id:
2928776
ClinVar RCV Id:
RCV003789550
dbSNP Id:
rs548434230
gnomAD v3:
1-68431395-G-A
gnomAD v4:
1-68431395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431395G>A , CM000663.2:g.68431395G>A | GRCh38 |
| NC_000001.10:g.68897078G>A , CM000663.1:g.68897078G>A | GRCh37 |
| NC_000001.9:g.68669666G>A | NCBI36 |
| NG_008472.1:g.23565C>T | |
| NG_008472.2:g.23565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1244-19C>T MANE Select | ENSP00000262340.5:n.1244-19C>T | |
| ENST00000262340.5:c.1244-19C>T | ENSP00000262340.5:n.1244-19C>T | |
| NM_000329.2:c.1244-19C>T | NP_000320.1:n.1244-19C>T | |
| XM_017002027.1:c.968-19C>T | XP_016857516.1:n.968-19C>T | |
| NM_000329.3:c.1244-19C>T MANE Select | NP_000320.1:n.1244-19C>T |