Linked Data
ClinVar Variation Id:
2892507
ClinVar RCV Id:
RCV003619581
dbSNP Id:
rs769063117
ExAC:
4:52894282 C / A
gnomAD v3:
4-52028116-C-A
gnomAD v4:
4-52028116-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028116C>A , CM000666.2:g.52028116C>A | GRCh38 |
| NC_000004.11:g.52894282C>A , CM000666.1:g.52894282C>A | GRCh37 |
| NC_000004.10:g.52589039C>A | NCBI36 |
| NG_008891.1:g.15204G>T , LRG_204:g.15204G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.622-17G>T MANE Select | ENSP00000370839.6:n.622-17G>T | |
| ENST00000381431.9:c.622-17G>T | ENSP00000370839.5:n.622-17G>T | |
| NM_000232.4:c.622-17G>T , LRG_204t1:c.622-17G>T | NP_000223.1:n.622-17G>T | |
| XM_006714049.2:c.325-17G>T | XP_006714112.1:n.325-17G>T | |
| XM_011534403.1:c.412-17G>T | XP_011532705.1:n.412-17G>T | |
| XM_011534404.1:c.325-17G>T | XP_011532706.1:n.325-17G>T | |
| NM_000232.5:c.622-17G>T MANE Select | NP_000223.1:n.622-17G>T |