Linked Data
ClinVar Variation Id:
10428
dbSNP Id:
rs104894809
gnomAD v3:
X-48792371-G-A
gnomAD v4:
X-48792371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48792371G>A , CM000685.2:g.48792371G>A | GRCh38 |
| NC_000023.10:g.48650778G>A , CM000685.1:g.48650778G>A | GRCh37 |
| NC_000023.9:g.48535722G>A | NCBI36 |
| NG_008846.2:g.10798G>A , LRG_559:g.10798G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651144.2:c.398G>A | ENSP00000498550.1:p.Arg133Gln | |
| ENST00000696450.1:c.647G>A | ENSP00000512637.1:p.Arg216Gln | |
| ENST00000696451.1:c.398G>A | ENSP00000512638.1:p.Arg133Gln | |
| ENST00000696452.1:c.398G>A | ENSP00000512639.1:p.Arg133Gln | |
| ENST00000376670.9:c.647G>A MANE Select | ENSP00000365858.3:p.Arg216Gln | |
| ENST00000651144.1:c.398G>A | ENSP00000498550.1:p.Arg133Gln | |
| ENST00000376665.4:c.647G>A | ENSP00000365853.3:p.Arg216Gln | |
| ENST00000376670.7:c.647G>A | ENSP00000365858.3:p.Arg216Gln | |
| NM_002049.3:c.647G>A , LRG_559t1:c.647G>A | NP_002040.1:p.Arg216Gln | |
| XM_011543897.1:c.647G>A | XP_011542199.1:p.Arg216Gln | |
| XM_011543898.1:c.398G>A | XP_011542200.1:p.Arg133Gln | |
| XM_011543897.2:c.647G>A | XP_011542199.1:p.Arg216Gln | |
| XM_011543898.2:c.398G>A | XP_011542200.1:p.Arg133Gln | |
| XM_024452363.1:c.398G>A | XP_024308131.1:p.Arg133Gln | |
| NM_002049.4:c.647G>A MANE Select | NP_002040.1:p.Arg216Gln |