Linked Data
ClinVar Variation Id:
309437
ClinVar RCV Id:
RCV000346574
dbSNP Id:
rs886049607
gnomAD v2:
12-52301356-G-A
gnomAD v3:
12-51907572-G-A
gnomAD v4:
12-51907572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51907572G>A , CM000674.2:g.51907572G>A | GRCh38 |
| NC_000012.11:g.52301356G>A , CM000674.1:g.52301356G>A | GRCh37 |
| NC_000012.10:g.50587623G>A | NCBI36 |
| NG_009549.1:g.5155G>A , LRG_543:g.5155G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551576.6:c.-129G>A | ENSP00000455848.2:n.-129G>A | |
| ENST00000388922.9:c.-129G>A MANE Select | ENSP00000373574.4:n.-129G>A | |
| ENST00000388922.8:c.-129G>A | ENSP00000373574.4:n.-129G>A | |
| ENST00000551576.5:c.-129G>A | ENSP00000455848.1:n.-129G>A | |
| NM_000020.2:c.-129G>A , LRG_543t1:c.-129G>A | NP_000011.2:n.-129G>A | |
| XM_005269235.2:c.-129G>A | XP_005269292.1:n.-129G>A | |
| NM_000020.3:c.-129G>A MANE Select | NP_000011.2:n.-129G>A |