Linked Data
ClinVar Variation Id:
53047
ClinVar RCV Id:
RCV000046061
RCV000182254
RCV000506366
RCV000826192
RCV000851189
RCV002288548
RCV001841645
RCV002336179
dbSNP Id:
rs397508111
ExAC:
11:2549253 G / A
gnomAD v2:
11-2549253-G-A
gnomAD v3:
11-2528023-G-A
gnomAD v4:
11-2528023-G-A
PubMed:
PMID:15840476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2528023G>A , CM000673.2:g.2528023G>A | GRCh38 |
| NC_000011.9:g.2549253G>A , CM000673.1:g.2549253G>A | GRCh37 |
| NC_000011.8:g.2505829G>A | NCBI36 |
| NG_008935.1:g.88033G>A , LRG_287:g.88033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.216+5G>A | ENSP00000434560.2:n.216+5G>A | |
| ENST00000646564.2:c.477+5G>A | ENSP00000495806.2:n.477+5G>A | |
| ENST00000155840.12:c.477+5G>A MANE Select | ENSP00000155840.2:n.477+5G>A | |
| ENST00000335475.6:c.96+5G>A | ENSP00000334497.5:n.96+5G>A | |
| ENST00000646564.1:c.123+5G>A | ENSP00000495806.1:n.123+5G>A | |
| ENST00000155840.9:c.477+5G>A | ENSP00000155840.2:n.477+5G>A | |
| ENST00000335475.5:c.96+5G>A | ENSP00000334497.5:n.96+5G>A | |
| ENST00000496887.6:c.216+5G>A | ENSP00000434560.1:n.216+5G>A | |
| NM_000218.2:c.477+5G>A , LRG_287t1:c.477+5G>A | NP_000209.2:n.477+5G>A | |
| NM_181798.1:c.96+5G>A , LRG_287t2:c.96+5G>A | NP_861463.1:n.96+5G>A | |
| NM_000218.3:c.477+5G>A MANE Select | NP_000209.2:n.477+5G>A |