Linked Data
ClinVar Variation Id:
1156044
ClinVar RCV Id:
RCV001498584
dbSNP Id:
rs746606358
ExAC:
17:48274041 G / A
gnomAD v2:
17-48274041-G-A
gnomAD v4:
17-50196680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196680G>A , CM000679.2:g.50196680G>A | GRCh38 |
| NC_000017.10:g.48274041G>A , CM000679.1:g.48274041G>A | GRCh37 |
| NC_000017.9:g.45629040G>A | NCBI36 |
| NG_007400.1:g.9960C>T , LRG_1:g.9960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.805-10C>T MANE Select | ENSP00000225964.6:n.805-10C>T | |
| ENST00000225964.9:c.805-10C>T | ENSP00000225964.5:n.805-10C>T | |
| ENST00000495677.1:n.532-10C>T | ||
| NM_000088.3:c.805-10C>T , LRG_1t1:c.805-10C>T | NP_000079.2:n.805-10C>T | |
| XM_005257058.3:c.805-10C>T | XP_005257115.2:n.805-10C>T | |
| XM_005257059.3:c.805-10C>T | XP_005257116.2:n.805-10C>T | |
| XM_011524341.1:c.805-10C>T | XP_011522643.1:n.805-10C>T | |
| XM_005257058.4:c.805-10C>T | XP_005257115.2:n.805-10C>T | |
| XM_005257059.4:c.805-10C>T | XP_005257116.2:n.805-10C>T | |
| NM_000088.4:c.805-10C>T MANE Select | NP_000079.2:n.805-10C>T |