Linked Data
ClinVar Variation Id:
2728937
ClinVar RCV Id:
RCV003514286
dbSNP Id:
rs774126881
gnomAD v3:
13-48303833-G-A
gnomAD v4:
13-48303833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303833G>A , CM000675.2:g.48303833G>A | GRCh38 |
| NC_000013.10:g.48877969G>A , CM000675.1:g.48877969G>A | GRCh37 |
| NC_000013.9:g.47775970G>A | NCBI36 |
| NG_009009.1:g.5087G>A , LRG_517:g.5087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.-80G>A MANE Select | ENSP00000267163.4:n.-80G>A | |
| ENST00000646097.1:c.-80G>A | ENSP00000496556.1:n.-80G>A | |
| ENST00000650461.1:c.-80G>A | ENSP00000497193.1:n.-80G>A | |
| ENST00000267163.4:c.-80G>A | ENSP00000267163.4:n.-80G>A | |
| ENST00000467505.5:c.-80G>A | ENSP00000434702.1:n.-80G>A | |
| ENST00000525036.1:n.83G>A | ||
| NM_000321.2:c.-80G>A , LRG_517t1:c.-80G>A | NP_000312.2:n.-80G>A | |
| NM_000321.3:c.-80G>A MANE Select | NP_000312.2:n.-80G>A |