Linked Data
ClinVar Variation Id:
508030
ClinVar RCV Id:
RCV000604552
dbSNP Id:
rs866291734
gnomAD v2:
1-2160157-G-T
gnomAD v3:
1-2228718-G-T
gnomAD v4:
1-2228718-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228718G>T , CM000663.2:g.2228718G>T | GRCh38 |
| NC_000001.10:g.2160157G>T , CM000663.1:g.2160157G>T | GRCh37 |
| NC_000001.9:g.2150017G>T | NCBI36 |
| NG_013084.1:g.5024G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1194G>T | ||
| ENST00000378536.5:c.-49G>T MANE Select | ENSP00000367797.4:n.-49G>T | |
| ENST00000378536.4:c.-49G>T | ENSP00000367797.4:n.-49G>T | |
| NM_003036.3:c.-49G>T | NP_003027.1:n.-49G>T | |
| NM_003036.4:c.-49G>T MANE Select | NP_003027.1:n.-49G>T |