Linked Data
ClinVar Variation Id:
2061607
ClinVar RCV Id:
RCV002942860
dbSNP Id:
rs745528226
ExAC:
1:68897063 C / T
gnomAD v2:
1-68897063-C-T
gnomAD v4:
1-68431380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431380C>T , CM000663.2:g.68431380C>T | GRCh38 |
| NC_000001.10:g.68897063C>T , CM000663.1:g.68897063C>T | GRCh37 |
| NC_000001.9:g.68669651C>T | NCBI36 |
| NG_008472.1:g.23580G>A | |
| NG_008472.2:g.23580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1244-4G>A MANE Select | ENSP00000262340.5:n.1244-4G>A | |
| ENST00000262340.5:c.1244-4G>A | ENSP00000262340.5:n.1244-4G>A | |
| NM_000329.2:c.1244-4G>A | NP_000320.1:n.1244-4G>A | |
| XM_017002027.1:c.968-4G>A | XP_016857516.1:n.968-4G>A | |
| NM_000329.3:c.1244-4G>A MANE Select | NP_000320.1:n.1244-4G>A |