Linked Data
ClinVar Variation Id:
1940800
ClinVar RCV Id:
RCV002639518
gnomAD v4:
12-5044896-G-A
COSMIC:
COSM131125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044896G>A , CM000674.2:g.5044896G>A | GRCh38 |
| NC_000012.11:g.5154062G>A , CM000674.1:g.5154062G>A | GRCh37 |
| NC_000012.10:g.5024323G>A | NCBI36 |
| NG_012198.1:g.5978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.749G>A MANE Select | ENSP00000252321.3:p.Arg250Gln | |
| ENST00000252321.4:c.749G>A | ENSP00000252321.3:p.Arg250Gln | |
| NM_002234.3:c.749G>A | NP_002225.2:p.Arg250Gln | |
| NM_002234.4:c.749G>A MANE Select | NP_002225.2:p.Arg250Gln |