Linked Data
ClinVar Variation Id:
3057492
ClinVar RCV Id:
RCV003981393
dbSNP Id:
rs1364497478
gnomAD v2:
X-153607728-G-A
gnomAD v3:
X-154379368-G-A
gnomAD v4:
X-154379368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379368G>A , CM000685.2:g.154379368G>A | GRCh38 |
| NC_000023.10:g.153607728G>A , CM000685.1:g.153607728G>A | GRCh37 |
| NC_000023.9:g.153260922G>A | NCBI36 |
| NG_008677.1:g.9933G>A , LRG_745:g.9933G>A | |
| NG_011506.1:g.279C>T | |
| NG_011506.2:g.271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-117G>A MANE Select | ENSP00000358857.4:n.-117G>A | |
| ENST00000369835.3:c.-117G>A | ENSP00000358850.3:n.-117G>A | |
| ENST00000369842.8:c.-117G>A | ENSP00000358857.4:n.-117G>A | |
| ENST00000428228.5:c.-117G>A | ENSP00000401081.1:n.-117G>A | |
| ENST00000486738.5:n.28G>A | ||
| NM_000117.2:c.-117G>A , LRG_745t1:c.-117G>A | NP_000108.1:n.-117G>A | |
| XM_024452349.1:c.-325G>A | XP_024308117.1:n.-325G>A | |
| NM_000117.3:c.-117G>A MANE Select | NP_000108.1:n.-117G>A |