Linked Data
ClinVar Variation Id:
1109743
ClinVar RCV Id:
RCV001435705
dbSNP Id:
rs768782428
ExAC:
17:48274601 G / A
gnomAD v2:
17-48274601-G-A
gnomAD v4:
17-50197240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197240G>A , CM000679.2:g.50197240G>A | GRCh38 |
| NC_000017.10:g.48274601G>A , CM000679.1:g.48274601G>A | GRCh37 |
| NC_000017.9:g.45629600G>A | NCBI36 |
| NG_007400.1:g.9400C>T , LRG_1:g.9400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.697-7C>T MANE Select | ENSP00000225964.6:n.697-7C>T | |
| ENST00000225964.9:c.697-7C>T | ENSP00000225964.5:n.697-7C>T | |
| ENST00000495677.1:n.424-7C>T | ||
| NM_000088.3:c.697-7C>T , LRG_1t1:c.697-7C>T | NP_000079.2:n.697-7C>T | |
| XM_005257058.3:c.697-7C>T | XP_005257115.2:n.697-7C>T | |
| XM_005257059.3:c.697-7C>T | XP_005257116.2:n.697-7C>T | |
| XM_011524341.1:c.697-7C>T | XP_011522643.1:n.697-7C>T | |
| XM_005257058.4:c.697-7C>T | XP_005257115.2:n.697-7C>T | |
| XM_005257059.4:c.697-7C>T | XP_005257116.2:n.697-7C>T | |
| NM_000088.4:c.697-7C>T MANE Select | NP_000079.2:n.697-7C>T |