Linked Data
ClinVar Variation Id:
2894807
ClinVar RCV Id:
RCV003619620
dbSNP Id:
rs999398295
gnomAD v2:
4-52894285-G-T
gnomAD v4:
4-52028119-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028119G>T , CM000666.2:g.52028119G>T | GRCh38 |
| NC_000004.11:g.52894285G>T , CM000666.1:g.52894285G>T | GRCh37 |
| NC_000004.10:g.52589042G>T | NCBI36 |
| NG_008891.1:g.15201C>A , LRG_204:g.15201C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.622-20C>A MANE Select | ENSP00000370839.6:n.622-20C>A | |
| ENST00000381431.9:c.622-20C>A | ENSP00000370839.5:n.622-20C>A | |
| NM_000232.4:c.622-20C>A , LRG_204t1:c.622-20C>A | NP_000223.1:n.622-20C>A | |
| XM_006714049.2:c.325-20C>A | XP_006714112.1:n.325-20C>A | |
| XM_011534403.1:c.412-20C>A | XP_011532705.1:n.412-20C>A | |
| XM_011534404.1:c.325-20C>A | XP_011532706.1:n.325-20C>A | |
| NM_000232.5:c.622-20C>A MANE Select | NP_000223.1:n.622-20C>A |