Linked Data
ClinVar Variation Id:
2906368
ClinVar RCV Id:
RCV003632722
dbSNP Id:
rs756887759
ExAC:
17:48273276 G / C
gnomAD v2:
17-48273276-G-C
gnomAD v4:
17-50195915-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195915G>C , CM000679.2:g.50195915G>C | GRCh38 |
| NC_000017.10:g.48273276G>C , CM000679.1:g.48273276G>C | GRCh37 |
| NC_000017.9:g.45628275G>C | NCBI36 |
| NG_007400.1:g.10725C>G , LRG_1:g.10725C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1056+8C>G MANE Select | ENSP00000225964.6:n.1056+8C>G | |
| ENST00000225964.9:c.1056+8C>G | ENSP00000225964.5:n.1056+8C>G | |
| NM_000088.3:c.1056+8C>G , LRG_1t1:c.1056+8C>G | NP_000079.2:n.1056+8C>G | |
| XM_005257058.3:c.1056+8C>G | XP_005257115.2:n.1056+8C>G | |
| XM_005257059.3:c.957+399C>G | XP_005257116.2:n.957+399C>G | |
| XM_011524341.1:c.957+399C>G | XP_011522643.1:n.957+399C>G | |
| XM_005257058.4:c.1056+8C>G | XP_005257115.2:n.1056+8C>G | |
| XM_005257059.4:c.957+399C>G | XP_005257116.2:n.957+399C>G | |
| NM_000088.4:c.1056+8C>G MANE Select | NP_000079.2:n.1056+8C>G |