Linked Data
ClinVar Variation Id:
3023974
ClinVar RCV Id:
RCV003881069
dbSNP Id:
rs544912500
ExAC:
2:189963438 G / A
gnomAD v2:
2-189963438-G-A
gnomAD v3:
2-189098712-G-A
gnomAD v4:
2-189098712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098712G>A , CM000664.2:g.189098712G>A | GRCh38 |
| NC_000002.11:g.189963438G>A , CM000664.1:g.189963438G>A | GRCh37 |
| NC_000002.10:g.189671683G>A | NCBI36 |
| NG_011799.1:g.86168C>T | |
| NG_011799.2:g.86168C>T | |
| NG_011799.3:g.131590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.402+15C>T MANE Select | ENSP00000364000.3:n.402+15C>T | |
| ENST00000649966.1:c.264+15C>T | ENSP00000496785.1:n.264+15C>T | |
| ENST00000374866.7:c.402+15C>T | ENSP00000364000.3:n.402+15C>T | |
| ENST00000618828.1:c.-229+15C>T | ENSP00000482184.1:n.-229+15C>T | |
| NM_000393.3:c.402+15C>T | NP_000384.2:n.402+15C>T | |
| XM_011510573.1:c.264+15C>T | XP_011508875.1:n.264+15C>T | |
| NM_000393.4:c.402+15C>T | NP_000384.2:n.402+15C>T | |
| XM_011510573.3:c.264+15C>T | XP_011508875.1:n.264+15C>T | |
| NM_000393.5:c.402+15C>T MANE Select | NP_000384.2:n.402+15C>T |