Linked Data
ClinVar Variation Id:
683350
ClinVar RCV Id:
RCV000843512
dbSNP Id:
rs2586497
gnomAD v2:
17-48276162-C-T
gnomAD v3:
17-50198801-C-T
gnomAD v4:
17-50198801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50198801C>T , CM000679.2:g.50198801C>T | GRCh38 |
| NC_000017.10:g.48276162C>T , CM000679.1:g.48276162C>T | GRCh37 |
| NC_000017.9:g.45631161C>T | NCBI36 |
| NG_007400.1:g.7839G>A , LRG_1:g.7839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.472-297G>A MANE Select | ENSP00000225964.6:n.472-297G>A | |
| ENST00000225964.9:c.472-297G>A | ENSP00000225964.5:n.472-297G>A | |
| NM_000088.3:c.472-297G>A , LRG_1t1:c.472-297G>A | NP_000079.2:n.472-297G>A | |
| XM_005257058.3:c.472-297G>A | XP_005257115.2:n.472-297G>A | |
| XM_005257059.3:c.472-297G>A | XP_005257116.2:n.472-297G>A | |
| XM_011524341.1:c.472-297G>A | XP_011522643.1:n.472-297G>A | |
| XM_005257058.4:c.472-297G>A | XP_005257115.2:n.472-297G>A | |
| XM_005257059.4:c.472-297G>A | XP_005257116.2:n.472-297G>A | |
| NM_000088.4:c.472-297G>A MANE Select | NP_000079.2:n.472-297G>A |