Linked Data
ClinVar Variation Id:
2165312
ClinVar RCV Id:
RCV003084305
dbSNP Id:
rs548434230
ExAC:
1:68897078 G / T
gnomAD v2:
1-68897078-G-T
gnomAD v3:
1-68431395-G-T
gnomAD v4:
1-68431395-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431395G>T , CM000663.2:g.68431395G>T | GRCh38 |
| NC_000001.10:g.68897078G>T , CM000663.1:g.68897078G>T | GRCh37 |
| NC_000001.9:g.68669666G>T | NCBI36 |
| NG_008472.1:g.23565C>A | |
| NG_008472.2:g.23565C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1244-19C>A MANE Select | ENSP00000262340.5:n.1244-19C>A | |
| ENST00000262340.5:c.1244-19C>A | ENSP00000262340.5:n.1244-19C>A | |
| NM_000329.2:c.1244-19C>A | NP_000320.1:n.1244-19C>A | |
| XM_017002027.1:c.968-19C>A | XP_016857516.1:n.968-19C>A | |
| NM_000329.3:c.1244-19C>A MANE Select | NP_000320.1:n.1244-19C>A |