Linked Data
ClinVar Variation Id:
2182558
ClinVar RCV Id:
RCV002592072
dbSNP Id:
rs369925208
ExAC:
17:48271814 T / G
gnomAD v2:
17-48271814-T-G
gnomAD v4:
17-50194453-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194453T>G , CM000679.2:g.50194453T>G | GRCh38 |
| NC_000017.10:g.48271814T>G , CM000679.1:g.48271814T>G | GRCh37 |
| NC_000017.9:g.45626813T>G | NCBI36 |
| NG_007400.1:g.12187A>C , LRG_1:g.12187A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1516-6A>C MANE Select | ENSP00000225964.6:n.1516-6A>C | |
| ENST00000225964.9:c.1516-6A>C | ENSP00000225964.5:n.1516-6A>C | |
| ENST00000471344.1:n.460-6A>C | ||
| NM_000088.3:c.1516-6A>C , LRG_1t1:c.1516-6A>C | NP_000079.2:n.1516-6A>C | |
| XM_005257058.3:c.1516-6A>C | XP_005257115.2:n.1516-6A>C | |
| XM_005257059.3:c.958-1760A>C | XP_005257116.2:n.958-1760A>C | |
| XM_011524341.1:c.1318-6A>C | XP_011522643.1:n.1318-6A>C | |
| XM_005257058.4:c.1516-6A>C | XP_005257115.2:n.1516-6A>C | |
| XM_005257059.4:c.958-1760A>C | XP_005257116.2:n.958-1760A>C | |
| NM_000088.4:c.1516-6A>C MANE Select | NP_000079.2:n.1516-6A>C |