Linked Data
ClinVar Variation Id:
1468196
ClinVar RCV Id:
RCV001970597
dbSNP Id:
rs1287364718
gnomAD v2:
17-7915548-G-A
gnomAD v3:
17-8012230-G-A
gnomAD v4:
17-8012230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012230G>A , CM000679.2:g.8012230G>A | GRCh38 |
| NC_000017.10:g.7915548G>A , CM000679.1:g.7915548G>A | GRCh37 |
| NC_000017.9:g.7856273G>A | NCBI36 |
| NG_009092.1:g.14561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1836G>A MANE Select | ENSP00000254854.4:p.Glu612= | |
| ENST00000254854.4:c.1836G>A | ENSP00000254854.4:p.Glu612= | |
| NM_000180.3:c.1836G>A | NP_000171.1:p.Glu612= | |
| XM_011523816.1:c.1836G>A | XP_011522118.1:p.Glu612= | |
| NM_000180.4:c.1836G>A MANE Select | NP_000171.1:p.Glu612= |