Linked Data
ClinVar Variation Id:
265506
ClinVar RCV Id:
RCV000255313
RCV000354105
RCV000556474
RCV000626815
RCV000844694
RCV001814135
RCV002227463
RCV003989514
RCV001261891
dbSNP Id:
rs747900252
ExAC:
21:47545690 G / A
gnomAD v2:
21-47545690-G-A
gnomAD v3:
21-46125776-G-A
gnomAD v4:
21-46125776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125776G>A , CM000683.2:g.46125776G>A | GRCh38 |
| NC_000021.8:g.47545690G>A , CM000683.1:g.47545690G>A | GRCh37 |
| NC_000021.7:g.46370118G>A | NCBI36 |
| NG_008675.1:g.32658G>A , LRG_476:g.32658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1970-9G>A MANE Plus Clinical | ENSP00000380870.1:n.1970-9G>A | |
| ENST00000300527.9:c.1970-9G>A MANE Select | ENSP00000300527.4:n.1970-9G>A | |
| ENST00000409416.6:c.1970-9G>A | ENSP00000387115.1:n.1970-9G>A | |
| ENST00000300527.8:c.1970-9G>A | ENSP00000300527.4:n.1970-9G>A | |
| ENST00000310645.9:c.1970-9G>A | ENSP00000312529.5:n.1970-9G>A | |
| ENST00000397763.5:c.1970-9G>A | ENSP00000380870.1:n.1970-9G>A | |
| ENST00000409416.5:c.1970-9G>A | ENSP00000387115.1:n.1970-9G>A | |
| ENST00000413758.1:c.641-9G>A | ENSP00000395751.1:n.641-9G>A | |
| NM_001849.3:c.1970-9G>A , LRG_476t1:c.1970-9G>A | NP_001840.3:n.1970-9G>A | |
| NM_058174.2:c.1970-9G>A | NP_478054.2:n.1970-9G>A | |
| NM_058175.2:c.1970-9G>A | NP_478055.2:n.1970-9G>A | |
| XM_011529451.1:c.1970-9G>A | XP_011527753.1:n.1970-9G>A | |
| XM_011529452.1:c.1970-9G>A | XP_011527754.1:n.1970-9G>A | |
| XR_937438.1:n.2047-9G>A | ||
| XR_937439.1:n.2047-9G>A | ||
| XR_937438.2:n.2054-9G>A | ||
| XR_937439.2:n.2054-9G>A | ||
| NM_001849.4:c.1970-9G>A MANE Select | NP_001840.3:n.1970-9G>A | |
| NM_058174.3:c.1970-9G>A MANE Plus Clinical | NP_478054.2:n.1970-9G>A | |
| NM_058175.3:c.1970-9G>A | NP_478055.2:n.1970-9G>A |