Linked Data
ClinVar Variation Id:
2182672
ClinVar RCV Id:
RCV002610970
dbSNP Id:
rs775914893
ExAC:
17:48274427 G / A
gnomAD v2:
17-48274427-G-A
gnomAD v4:
17-50197066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197066G>A , CM000679.2:g.50197066G>A | GRCh38 |
| NC_000017.10:g.48274427G>A , CM000679.1:g.48274427G>A | GRCh37 |
| NC_000017.9:g.45629426G>A | NCBI36 |
| NG_007400.1:g.9574C>T , LRG_1:g.9574C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.751-3C>T MANE Select | ENSP00000225964.6:n.751-3C>T | |
| ENST00000225964.9:c.751-3C>T | ENSP00000225964.5:n.751-3C>T | |
| ENST00000495677.1:n.478-3C>T | ||
| NM_000088.3:c.751-3C>T , LRG_1t1:c.751-3C>T | NP_000079.2:n.751-3C>T | |
| XM_005257058.3:c.751-3C>T | XP_005257115.2:n.751-3C>T | |
| XM_005257059.3:c.751-3C>T | XP_005257116.2:n.751-3C>T | |
| XM_011524341.1:c.751-3C>T | XP_011522643.1:n.751-3C>T | |
| XM_005257058.4:c.751-3C>T | XP_005257115.2:n.751-3C>T | |
| XM_005257059.4:c.751-3C>T | XP_005257116.2:n.751-3C>T | |
| NM_000088.4:c.751-3C>T MANE Select | NP_000079.2:n.751-3C>T |