Linked Data
ClinVar Variation Id:
42490
ClinVar RCV Id:
RCV000035346
RCV000299402
RCV000315237
RCV000354280
RCV000398075
RCV000399181
RCV001094024
RCV001841560
RCV001705644
dbSNP Id:
rs28730752
ExAC:
11:2591848 G / A
gnomAD v2:
11-2591848-G-A
gnomAD v3:
11-2570618-G-A
gnomAD v4:
11-2570618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570618G>A , CM000673.2:g.2570618G>A | GRCh38 |
| NC_000011.9:g.2591848G>A , CM000673.1:g.2591848G>A | GRCh37 |
| NC_000011.8:g.2548424G>A | NCBI36 |
| NG_008935.1:g.130628G>A , LRG_287:g.130628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.217-10G>A | ENSP00000434560.2:n.217-10G>A | |
| ENST00000646564.2:c.478-12817G>A | ENSP00000495806.2:n.478-12817G>A | |
| ENST00000155840.12:c.478-10G>A MANE Select | ENSP00000155840.2:n.478-10G>A | |
| ENST00000335475.6:c.97-10G>A | ENSP00000334497.5:n.97-10G>A | |
| ENST00000646564.1:c.124-12817G>A | ENSP00000495806.1:n.124-12817G>A | |
| ENST00000155840.9:c.478-10G>A | ENSP00000155840.2:n.478-10G>A | |
| ENST00000335475.5:c.97-10G>A | ENSP00000334497.5:n.97-10G>A | |
| ENST00000496887.6:c.217-10G>A | ENSP00000434560.1:n.217-10G>A | |
| NM_000218.2:c.478-10G>A , LRG_287t1:c.478-10G>A | NP_000209.2:n.478-10G>A | |
| NM_181798.1:c.97-10G>A , LRG_287t2:c.97-10G>A | NP_861463.1:n.97-10G>A | |
| NM_000218.3:c.478-10G>A MANE Select | NP_000209.2:n.478-10G>A |