Linked Data
ClinVar Variation Id:
3022216
ClinVar RCV Id:
RCV003881295
dbSNP Id:
rs372922733
ExAC:
1:115576161 C / T
gnomAD v2:
1-115576161-C-T
gnomAD v3:
1-115033540-C-T
gnomAD v4:
1-115033540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033540C>T , CM000663.2:g.115033540C>T | GRCh38 |
| NC_000001.10:g.115576161C>T , CM000663.1:g.115576161C>T | GRCh37 |
| NC_000001.9:g.115377684C>T | NCBI36 |
| NG_015891.1:g.8747C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.162+16C>T MANE Select | ENSP00000256592.1:n.162+16C>T | |
| ENST00000256592.2:c.162+16C>T | ENSP00000256592.1:n.162+16C>T | |
| ENST00000369517.1:c.162+16C>T | ENSP00000358530.1:n.162+16C>T | |
| NM_000549.4:c.162+16C>T | NP_000540.2:n.162+16C>T | |
| XM_011542065.1:c.162+16C>T | XP_011540367.1:n.162+16C>T | |
| XM_011542065.2:c.162+16C>T | XP_011540367.1:n.162+16C>T | |
| NM_000549.5:c.162+16C>T MANE Select | NP_000540.2:n.162+16C>T |